Middle East Journal of Medical Genetics

Author Index

A

Abdallah, Zeinab Y. Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment [Volume 10, Issue 2, 2022]
Abdallah, Zeinab Y. Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
Abd Allah, Saly G. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
AbdelAzeem, Amira A. A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2020]
Abd Elazim, Rania A. Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]
Abdelaziz, Doaa M. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
Abdel Baky, Olweya M. Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
Abdelfattah, Maha I Influence of Different Concentrations of Human Platelet Rich Plasma Versus Fetal Bovine Serum on Periodontal Ligament Derived Stem Cells [Volume 11, Issue 1, 2022, Pages 12-18]
Abdelfattah, Maha I. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Abd El-Fattah, Abeer I. Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2020]
Abd El-Fattah, Safa N. Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Abdel-Ghafar, Sherif F. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Abd El-Ghany, Hoda M. Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
Abd El-Ghany, Hoda M. Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2021]
Abdelhamid, Ismail A. A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2020]
Abdel-Hamid, Mohamed S. A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
Abdel-Hamid, Mohamed S Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
Abdel-Hamid, Mohamed S. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Abd El-Hamid, Mahmoud F. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Abdelkader, Mohamed A. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Abdel Kader, Rania M. Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p [Volume 13, Issue 1, 2024, Pages 16-20]
Abdel Kader, Rania M.A. Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Abdel Kader, Rania M. A. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Abdel-Kader, Mohmed Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
AbdelKader, Mohamed A. A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2020]
Abdelkawy, Rania F. M. Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
Abdel Latif, Hend Mehawed Study of the Quality of Life in children and adolescents with Disorders of Sex Development (DSD) [Volume 12, Issue 1, 2023, Pages 1-14]
Abd El-Massieh, Phoebe M. Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
Abd El-Massieh, Phoebe M. Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
Abd-Elnaby, Azza E Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
Abdelrahman, Amany H. Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Abdelrahman, Moustapha A. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Abdel Raouf, Sahar M. Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
Abdel Salam, Ghada M.H. Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p [Volume 13, Issue 1, 2024, Pages 16-20]
Abdel-Salam, Ghada M.H. Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
Abdel-Salam, Ghada Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
Aboul-Ezz, Eman Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Aboul-Ezz, Eman H. A. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
AboulEzz, Eman Craniofacial anomalies and three-dimensional imaging modalities with reference to the Egyptian experience [Volume 10, Issue 1, 2021]
Aboulnasr, Ahmed L. Prenatal counseling and diagnosis of Gaucher disease in Egypt: an 18-year experience [Volume 8, Issue 1, 2019]
Abouzaid, Maha R. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Abozid, Heba E. Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis [Volume 11, Issue 2, 2022, Pages 65-72]
AbulEzz, Eman A. A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2020]
AbulEzz, Eman A. Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
Abulnasr, Ahmed L Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Adebisi, Samuel S. MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155 [Volume 7, Issue 2, 2018]
Afifi, Hanan H. Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
Agadi, Soumya The Need for Continuous Genomic Surveillance for Early Diagnosis of Novel Virus Infection [Volume 11, Issue 2, 2022, Pages 73-74]
Aglan, Mona Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Aglan, Mona S. Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
Aglan, Mona S. Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
Aglan, Mona S. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
Aglan, Mona S. A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]
Aglan, Mona S. A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2020]
Aglan, Mona S. Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
Aglan, Mona S. Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
Aglan, Mona S. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Ahmed, Nermeen El.Moataz B. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Ahmed Kamel, Inas E. M. Osteoarthritis in patients with familial Mediterranean fever: genetic basis and anti-inflammatory effect of laser acupuncture [Volume 8, Issue 1, 2019]
Akhavan-Niaki, Haleh Genotype–phenotype association in alpha-thalassemia cohort in a population with high prevalence of alpha and beta-thalassemia: importance of genetic screening [Volume 10, Issue 1, 2021]
Alassi, Hoda H. Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2020]
Al-Gamal, Rasha A. Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
Ali, Ola S. M. Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2021]
Amer, Mahmoud A. A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
Amin, Sherine K. Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
Ammar, Shaimaa S. Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2020]
Ammar, Tamer H.A. Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
Amr, Khalda S. Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
Amr, Khalda A novel frameshift mutation of in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa [Volume 8, Issue 2, 2020]
Amr, Khalda Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
Anwar, Ghada Mohammad Study of the Quality of Life in children and adolescents with Disorders of Sex Development (DSD) [Volume 12, Issue 1, 2023, Pages 1-14]
Anwar, Shaimaa A. Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2020]
Ashaat, Engy A. Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
Ashaat, Engy A. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Ashaat, Engy A. Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
Ashaat, Engy Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Ashaat, Engy A. Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
Ashaat, Engy A. Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2022]
Ashaat, Engy A. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
Ashaat, Engy A. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
Ashaat, Engy A. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Ashaat, Engy A. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
Ashaat, Engy A. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Ashaat, Neveen A. Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
Awad, Soha I. Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]
Azizi, Mandana Genotype–phenotype association in alpha-thalassemia cohort in a population with high prevalence of alpha and beta-thalassemia: importance of genetic screening [Volume 10, Issue 1, 2021]

B

Baiomy, Ahmed A. A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
Banihashemi, Ali Genotype–phenotype association in alpha-thalassemia cohort in a population with high prevalence of alpha and beta-thalassemia: importance of genetic screening [Volume 10, Issue 1, 2021]
Behiry, Eman Gamal Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
Bellah, Nermeen El Moataz Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]

C

Cantagrel, Vincent Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]

D

Danborno, Barnabas MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155 [Volume 7, Issue 2, 2018]
Dawoud, Heba Case of autosomal-recessive spinal muscular atrophy with respiratory distress type 1 caused by compound heterozygous mutations in immunoglobulin-binding protein 2 gene: expansion in clinical features [Volume 10, Issue 2, 2022]
Deen Dakroury, Marwa Bahaa El Deen Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2020]
Dhillon, Gurpreet Black Immunity: Racial discrimination or genetic susceptibility? [Volume 10, Issue 1, 2021]
Dhillon, Harpreet S. Black Immunity: Racial discrimination or genetic susceptibility? [Volume 10, Issue 1, 2021]

E

Effat, Laila Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
Ehssan, Eman A. Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
Eid, Maha M. Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
Eid, Maha M. Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
Eid, Maha M. Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
Eid, Maha M. Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p [Volume 13, Issue 1, 2024, Pages 16-20]
Eid, Maha M. Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Eid, Maha M. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Eid, Ola M. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Eid, Ola M. Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p [Volume 13, Issue 1, 2024, Pages 16-20]
Eid, Ola M. Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Eid, Ola M. Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
Eid, Ola M Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
Eid, Ola Corneal Opacity and Genetics [Volume 12, Issue 2, 2023, Pages 1-12]
Eid, Ola M. Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Eid, Ola M. Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
Eid, Ola M. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
Eissa, Noura R. Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
Eissa, Noura R. Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
Elaidy, Aya Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
Elaidy, Aya Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
El-Awady, Heba Assessment of serum level of vitamin D in infants and children with Down syndrome [Volume 7, Issue 2, 2018]
El-Badry, Tarek Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
El-Badry, Tarek H. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
ElBadry, Tarek Craniofacial anomalies and three-dimensional imaging modalities with reference to the Egyptian experience [Volume 10, Issue 1, 2021]
Elbagoury, Nagham M. Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
Elbagoury, Nagham M. Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2020]
El-Bagoury, Nagham M. Genome-editing technologies: Advancement, clinical applications, and ethical concerns [Volume 7, Issue 2, 2018]
El-Bassyouni, Hala T. Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
El-Bassyouni, Hala T. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
El-Bassyouni, Hala T. Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
El-Bassyouni, Hala T Osteoarthritis in patients with familial Mediterranean fever: genetic basis and anti-inflammatory effect of laser acupuncture [Volume 8, Issue 1, 2019]
El-Bassyouni, Hala T. Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
El-Bassyouni, Hala T. Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
El-Bassyouni, Hala T. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
El-Bassyouni, Hala T. Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
El-Bassyouni, Hala T. Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2021]
El Batran, Mona Craniofacial anomalies and three-dimensional imaging modalities with reference to the Egyptian experience [Volume 10, Issue 1, 2021]
Elbeltagy, Nanis S. Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]
El Darouti, Mohamed A novel frameshift mutation of in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa [Volume 8, Issue 2, 2020]
Eldeen, Ghada N. Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
El-Deen, Amany S. Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
El-Deen, Menatalla K. Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
El-Desouky, Dina Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
El Dessouki, Dina Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
Eldessouky, Sara H. Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2021]
El-Fattha, Aliaa A. A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2020]
El Gazzar, Mohammed Abd Elmaboud Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
Elgerzawi, Asaad Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Elgerzawy, Assad M. S. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
El Ghor, Mohammed Akmal Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2020]
El-Hadidi, Saher M. Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
El-Hawary, Manal M. Assessment of serum level of vitamin D in infants and children with Down syndrome [Volume 7, Issue 2, 2018]
Elhossini, Rasha Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Elhossini, Rasha M. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
El-Husseini, Rasha Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
El-Kamah, Ghada Y. Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
El-Kamah, Ghada Y. Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
El-Kamah, Ghada Y. Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
El-Kamah, Ghada A novel frameshift mutation of in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa [Volume 8, Issue 2, 2020]
EL-Kamah, Ghada Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
El-kholey, Weaam Mohammed Mohammed Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
Elkhouly, Asmaa E. A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
Elnady, Hala Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
El Noury, Mohamed A. Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis [Volume 11, Issue 2, 2022, Pages 65-72]
El Ruby, Mona O. Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
El Ruby, Mona O. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
El Ruby, Mona O. Updates about ethical, legal and psychological implications of genetic testing in newborns, children and adolescents [Volume 7, Issue 2, 2018]
El Ruby, Mona O. Genetic syndromes with immunological disturbances [Volume 7, Issue 2, 2018]
El Ruby, Mona O. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
El Ruby, Mona O. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
El-Ruby, Mona O. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Elshaer, Osama Saad Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
El-Shafie, Shahira M Assessment of serum level of vitamin D in infants and children with Down syndrome [Volume 7, Issue 2, 2018]
El-Shoubary, Alia M. Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
Eltoukhy, Safinaz E. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
El Toukhy, Safinaz Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
Erian, Peter SF Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
Erian, Peter SF Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
Erian, Peter SF Corneal Opacity and Genetics [Volume 12, Issue 2, 2023, Pages 1-12]
Esaily, Heba A. Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life [Volume 12, Issue 1, 2023, Pages 1-11]
Esmaiel, Nora N. Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
Esmaiel, Nora N. Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
Esmail, Asmaa M. Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
Esmail, Asmaa M. Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Essawi, Mona L. Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
Essawi, Mona L. Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
Essawi, Mona L. Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
Essawi, Mona L. Genome-editing technologies: Advancement, clinical applications, and ethical concerns [Volume 7, Issue 2, 2018]
Essawi, Mona L. Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
Essawi, Mona L. Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2020]
Essawi, Mona L. A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]

F

Fahiem, Reham Ahmed Genetic Predisposition of Language Disorders Among Different Independent Factors in Bronchial Asthma [Volume 13, Issue 1, 2024, Pages 32-38]
Farag, Mona K. Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
Farid, Marwa Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
Farid, Marwa Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Fateen, Ekram M. Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
Fateen, Ekram Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment [Volume 10, Issue 2, 2022]
Fateen, Ekram Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2020]
Fateen, Ekram M. Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
Fateen, Ekram M. Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2020]
Fateen, Ekram M. A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2020]
Fateen, Ekram M. Prenatal counseling and diagnosis of Gaucher disease in Egypt: an 18-year experience [Volume 8, Issue 1, 2019]
Fathy, Heba M. Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2020]
Fayez, Alaaeldin Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
Fayez, Alaaeldin Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
Fayez, Alaaeldin Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Fayez, Alaaeldin G. Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
Fetoh, Dina S. Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life [Volume 12, Issue 1, 2023, Pages 1-11]

G

Gaber, Khaled R. Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis [Volume 11, Issue 2, 2022, Pages 65-72]
Gaber, Khaled R. Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
Gadelhak, Mohamed I. Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
Gamal El Din, Heba M. Influence of Different Concentrations of Human Platelet Rich Plasma Versus Fetal Bovine Serum on Periodontal Ligament Derived Stem Cells [Volume 11, Issue 1, 2022, Pages 12-18]
Ghorab, Raghda M. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
Gouda, Amr S. Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis [Volume 11, Issue 2, 2022, Pages 65-72]

H

Hamed, Eman Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]
Hamed, Khaled Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
Hamed, Khaled Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Hamed, Khaled A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
Hamed, Khaled Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
Hammad, Saida A. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
Hammad, Saida A. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
Hammad, Saida A. Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
Hammad, Sayda Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
Hamza, Hala Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]
Harkan, Ahmed I. Case of autosomal-recessive spinal muscular atrophy with respiratory distress type 1 caused by compound heterozygous mutations in immunoglobulin-binding protein 2 gene: expansion in clinical features [Volume 10, Issue 2, 2022]
Hassan, Heba A. Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
Hassan, Heba Amin Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
Hassan, Heba A. Genome-editing technologies: Advancement, clinical applications, and ethical concerns [Volume 7, Issue 2, 2018]
Hassan, Heba A. A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]
Hassib, Nehal F. Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups [Volume 12, Issue 1, 2023, Pages 1-4]
Hassib, Nehal Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Hassib, Nehal F. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Hassib, Nehal F. A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2020]
Hassib, Nehal F. Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
Hellal, Usama S. Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups [Volume 12, Issue 1, 2023, Pages 1-4]
Helmy, Nivine Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
Helmy, Nivine A. Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
Helmy, Nivine Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Helmy, Nivine A. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Helmy, Nivine A. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Helwa, Iman Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
Helwa, Iman Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2022]
Helwa, Iman Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
Hindawy, Amina Autism spectrum disorder and achondroplasia in an Egyptian patient [Volume 10, Issue 2, 2022]
Hosny, Laila Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Hussein, Fatma Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Hussein, Shymaa H. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Hussein, Shymaa H. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
Hussen, Dalia Farouk Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
Hussen, Dalia F. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Hussen, Dalia F. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
Hussen, Dalia F. Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]

I

Ibrahim, Ilham Y. Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2021]
Ibrahim, Mona Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
Ibrahim, Mona M. Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
Ismail, Samira Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
Ismail, Samira Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Ismail, Samira Autism spectrum disorder and achondroplasia in an Egyptian patient [Volume 10, Issue 2, 2022]
Ismail, Samira Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
Ismail, Samira Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
Ismail, Samira Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
Ismail, Samira Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Ismail, Samira Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Ismail, Samira Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
Ismail, Samira A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]
Ismail, Samira Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Ismail, Somaia A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
Ismail, Somaia M. A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2020]
Ismail, Somaya Autism spectrum disorder and achondroplasia in an Egyptian patient [Volume 10, Issue 2, 2022]
Issa, Hesham Ali Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
Issa, Mahmoud Y. A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma [Volume 11, Issue 2, 2022, Pages 54-57]
Issa, Mahmoud Y. Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
Issa, Mahmoud Y. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]

K

Kamangari, Reza Youssefi Genotype–phenotype association in alpha-thalassemia cohort in a population with high prevalence of alpha and beta-thalassemia: importance of genetic screening [Volume 10, Issue 1, 2021]
Kamel, Alaa K. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Kamel, Alaa K Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
Kamel, Alaa K Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Kamel, Alaa K Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
Kamel, Alaa K. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
Kamel, Alaa K. Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
Kamel, Alaa K. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
Kamel, Alaa K. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Kassab, Mohammed M Development of mRNA vaccine against Measles virus globally [Volume 12, Issue 1, 2023, Pages 1-10]
Kassab, Mohammed M Screening and Exhibition of Fungal L-glutaminase Enzyme as an Anticancer Agent in Different Egypt Soil Environment [Volume 12, Issue 1, 2023, Pages 1-9]
Kassab, Mohammed M Screening and production of bacterial L-glutaminase as an anticancer agent from different soil environments in Egypt [Volume 12, Issue 1, 2023, Pages 1-12]
Kassem, Heba S. Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2020]
Kayed, Hesham F. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Khairat, Rabab Case of autosomal-recessive spinal muscular atrophy with respiratory distress type 1 caused by compound heterozygous mutations in immunoglobulin-binding protein 2 gene: expansion in clinical features [Volume 10, Issue 2, 2022]
Khalil, Yasmin M. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Khattab, Ahmed N. Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
Kholoussi, Naglaa Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
Kholoussi, Naglaa Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2022]
Kholoussi, Naglaa Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
Kholoussi, Naglaa Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
Kholoussi, Shams Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2022]
Kholoussi, Shams Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
Kholoussi, Shams M. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]

L

LA., Ibrahim Elevated CDR1as may affect CACNG5 and EGFR via hsa-miR-7-5p sponge in childhood dilated cardiomyopathy patients. [Volume 12, Issue 2, 2023, Pages 1-9]
Lotfy, Randa S. Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2021]

M

Mahmoud, Enas A novel frameshift mutation of in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa [Volume 8, Issue 2, 2020]
Mahmoud, Geilan A Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
Mahmoud, Wael M. Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Mahrous, Rana Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Mahrous, Rana Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Mamdouh, Rasha M. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
Manalikuzhiyil, Babitha Black Immunity: Racial discrimination or genetic susceptibility? [Volume 10, Issue 1, 2021]
Mansour, Lamia A novel frameshift mutation of in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa [Volume 8, Issue 2, 2020]
Mazen, Inas Mohammad Study of the Quality of Life in children and adolescents with Disorders of Sex Development (DSD) [Volume 12, Issue 1, 2023, Pages 1-14]
Mazen, Inas M. Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
Megahed, Hisham Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients [Volume 11, Issue 1, 2022, Pages 29-37]
Megahed, Hisham Autism spectrum disorder and achondroplasia in an Egyptian patient [Volume 10, Issue 2, 2022]
Megahed, Hisham Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]
Megahed, Hisham Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Meguid, Nagwa A. Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Mehrez, Mennat Craniofacial anomalies and three-dimensional imaging modalities with reference to the Egyptian experience [Volume 10, Issue 1, 2021]
Mehrez, Mennatahllah I. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
Mehrez, Mennat I. Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Mekkawy, Mona Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Mekkawy, Mona K Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
Mekkawy, Mona K. Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
Mohamed, Amal M. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Mohamed, Amal M. Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH) [Volume 12, Issue 1, 2023, Pages 1-7]
Mohamed, Amal M. Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children [Volume 13, Issue 1, 2024, Pages 21-31]
Mohamed, Amal Genetics of Retinoblastoma [Volume 12, Issue 2, 2023, Pages 1-16]
Mohamed, Amal Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Mohamed, Amal M. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
Mohamed, Amal M. Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2020]
Mohamed, Amal M. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Mohamed, Magdy M. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Mohamed, Nagwa H. Osteoarthritis in patients with familial Mediterranean fever: genetic basis and anti-inflammatory effect of laser acupuncture [Volume 8, Issue 1, 2019]
Mohamed, Ramy Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Mohamed, Ramy Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
Mohammed, Eman E. A. A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2020]
Momen, Nouran N. Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2021]
Morcos, Botros Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2022]
Mosaad, Rehab M. Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
Mostafa, Mostafa I. Atypical case of amelogenesis imperfecta and generalized impacted dentitions: dental management and follow ups [Volume 12, Issue 1, 2023, Pages 1-4]
Mostafa, Mostafa I. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]
MostafaSayed, Inas S. Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study [Volume 10, Issue 2, 2022]

N

Nabile, Raooth Assessment of serum level of vitamin D in infants and children with Down syndrome [Volume 7, Issue 2, 2018]
Nassar, Yasser Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
Nawito, Wasela M. Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
Nazim, Walaa S. Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis [Volume 11, Issue 2, 2022, Pages 65-72]
Ndodo, Nnaemeka D. MicroRNA-mediated sensitization of lung cancer cells to chemotherapeutics: the roles of miR-21 and miR-155 [Volume 7, Issue 2, 2018]
Nemat, Amany Craniofacial anomalies and three-dimensional imaging modalities with reference to the Egyptian experience [Volume 10, Issue 1, 2021]
Nesheli, Hassan Mahmoudi Genotype–phenotype association in alpha-thalassemia cohort in a population with high prevalence of alpha and beta-thalassemia: importance of genetic screening [Volume 10, Issue 1, 2021]
Niazy, Marwa H. Role of three-prime repair exonuclease (TREX1) variants in the susceptibility to systemic lupus erythematosus patients [Volume 12, Issue 2, 2023, Pages 1-7]
Nosier, Soha S. Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment [Volume 10, Issue 2, 2022]
Nosier, Soha S. Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]

O

Omar, Ahmed M. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Omar, Lobna A. Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2021]
Otaify, Ghada Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Otaify, Ghada A. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
Otaify, Ghada A. Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
Otaify, Ghada A. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]

P

Paniri, Alireza Genotype–phenotype association in alpha-thalassemia cohort in a population with high prevalence of alpha and beta-thalassemia: importance of genetic screening [Volume 10, Issue 1, 2021]
Patrick, Reeba Clinical report of Roifman syndrome with vitamin D-dependent rickets – an undocumented association [Volume 10, Issue 1, 2021]

R

Radwan, Hoda A novel frameshift mutation of in an Egyptian patient with autosomal recessive dystrophic epidermolysis bullosa [Volume 8, Issue 2, 2020]
Ragab, Tamer Assessment of serum level of vitamin D in infants and children with Down syndrome [Volume 7, Issue 2, 2018]
Ramadan, Abeer Osteoarthritis in patients with familial Mediterranean fever: genetic basis and anti-inflammatory effect of laser acupuncture [Volume 8, Issue 1, 2019]
Ramadan, Abeer Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss [Volume 13, Issue 1, 2024, Pages 1-8]
Ramzy, Magda Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
Ramzy, Magda I. Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Raouf, Haiam A. Association of epidermal growth factor genotype with angiogenesis in Egyptian hepatocellular carcinoma and cirrhotic patients [Volume 10, Issue 1, 2021]
Raouf, Haiam A. Cytokine profile in a cohort of Egyptian patients with autism spectrum disorders [Volume 10, Issue 2, 2022]
Raouf, Haiam A. Multiple cytokine analysis in familial Mediterranean fever Egyptian cases using multiplex assay (Luminex technology) as a new inflammatory biomarker for disease activity [Volume 8, Issue 2, 2020]
Raouf, Haiam A. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
Ravichandhiran, Gowthamkarthic The Need for Continuous Genomic Surveillance for Early Diagnosis of Novel Virus Infection [Volume 11, Issue 2, 2022, Pages 73-74]
Reddy, Srivathsa T. Clinical report of Roifman syndrome with vitamin D-dependent rickets – an undocumented association [Volume 10, Issue 1, 2021]
Reddy, Srivathsa T. Professor Samia Temtamy: the founder of human genetics at the National Research Centre, Egypt [Volume 10, Issue 2, 2022]
Reddy, Srivathsa T. Molecular and cytogenetic diagnosis of disorders/differences of sex development: molecular update of genes controlling sexual differentiation [Volume 10, Issue 2, 2022]
Refaat, Khaled M. Genetic Factors Study among Congenital Heart Disease Children Using Multiplex Ligation Dependent Probe Amplification [Volume 12, Issue 2, 2023, Pages 1-10]
Refaat, Khaled M. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Refaat, Khaled M. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
Refaat, Khaled M. Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
Refaee, Abdelrahman Shawky Genetic Predisposition of Language Disorders Among Different Independent Factors in Bronchial Asthma [Volume 13, Issue 1, 2024, Pages 32-38]
Refeat, Miral M. Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]

S

Sabry, Sahar Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis [Volume 11, Issue 2, 2022, Pages 58-64]
Salman, Tarek M. Dysregulation of tumor necrosis factor-α and interleukin-6 as predictors of gestational disorders [Volume 7, Issue 2, 2018]
Samy, Rania M. Fragile X syndrome: diagnosis by molecular characterization of gene and clinical correlation [Volume 7, Issue 2, 2018]
Samy, Rania M. Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2021]
Sasidharan, Shibu Black Immunity: Racial discrimination or genetic susceptibility? [Volume 10, Issue 1, 2021]
Sayed, Inas Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Sayed, Inas S. M. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
Sayed, Ola M. Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
Sayed, Shereen A. Copy Number Variation Study of A Cohort of 46,XY DSD Patients [Volume 13, Issue 1, 2024, Pages 39-49]
Sayed-Ahmed, Mohammed Mamdouh Genetic Predisposition of Language Disorders Among Different Independent Factors in Bronchial Asthma [Volume 13, Issue 1, 2024, Pages 32-38]
Sayed-Ahmed, Mohammed M. Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
Shaheen, Ola Fragile X syndrome clinical and associated comorbidities [Volume 10, Issue 1, 2021]
Shaker, Mai M. Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes [Volume 12, Issue 1, 2023, Pages 1-9]
Shalabi, Taghreed A. Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes [Volume 12, Issue 1, 2023, Pages 1-9]
Sharaf-Eldin, Wessam E. Genome-editing technologies: Advancement, clinical applications, and ethical concerns [Volume 7, Issue 2, 2018]
Sharnoubi, Jehan A. Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis [Volume 11, Issue 2, 2022, Pages 65-72]
Shehata, Ghada M. Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2021]
Sherif, Naglaa S. Clinical implementation of sperm DNA fragmentation studies in the assessment of male unexplained infertility [Volume 10, Issue 1, 2021]
Singh, Shalendra Black Immunity: Racial discrimination or genetic susceptibility? [Volume 10, Issue 1, 2021]
Soliman, Doaa R. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Soliman, Hala N. Mutation analysis of the arylsulfatase B gene among Egyptian patients with Maroteaux–Lamy disorder [Volume 7, Issue 2, 2018]
Soliman, Hala N. Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2020]
Soliman, Nadia Craniofacial anomalies and three-dimensional imaging modalities with reference to the Egyptian experience [Volume 10, Issue 1, 2021]
Soliman, Neveen A. Biochemical evaluations at two time points in 15 patients with nephropathic cystinosis under cysteamine treatment [Volume 10, Issue 2, 2022]

T

Tamaddoni, Ahmad Genotype–phenotype association in alpha-thalassemia cohort in a population with high prevalence of alpha and beta-thalassemia: importance of genetic screening [Volume 10, Issue 1, 2021]
Tawfeek, Gehan Abd-Elfatah Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life [Volume 12, Issue 1, 2023, Pages 1-11]
Temtamy, Samia A. Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants [Volume 11, Issue 1, 2022, Pages 1-11]
Temtamy, Samia A. Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants [Volume 13, Issue 1, 2024, Pages 9-15]
Temtamy, Samia A. Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2020]
Temtamy, Samia A. Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
Temtamy, Samia A. A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]
Temtamy, Samia A. Frequency of balanced reciprocal translocations from couples with recurrent miscarriages correlates with the density of Alu and L1 repeat elements: literature finding-based study [Volume 8, Issue 1, 2019]
Temtamy, Samia A. Bone-specific therapeutic modalities for genetic skeletal diseases [Volume 8, Issue 2, 2020]
Temtamy, Samia A. A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2020]
Temtamy, Samia A. Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
Temtamy, Samia A. Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
Temtamy, Samia A. One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]
Temtamy, Samia A. Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2021]
Temtamy, Samia A. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2021]
Temtamy, Samia A. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
Thirumalesh, Parimala V. Clinical report of Roifman syndrome with vitamin D-dependent rickets – an undocumented association [Volume 10, Issue 1, 2021]
Thomas, Manal M. Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort [Volume 11, Issue 1, 2022, Pages 19-28]
Thomas, Manal M. Health-related quality of life in Egyptian patients with familial Mediterranean fever [Volume 11, Issue 1, 2022, Pages 38-45]
Thomas, Manal M. Study of the Quality of Life in children and adolescents with Disorders of Sex Development (DSD) [Volume 12, Issue 1, 2023, Pages 1-14]
Thomas, Manal M. Osteoarthritis in patients with familial Mediterranean fever: genetic basis and anti-inflammatory effect of laser acupuncture [Volume 8, Issue 1, 2019]

Y

Yahya, Raida S. Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]
Yousef, Walaa Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]

Z

Zakaria, Nahla M. Immunological profile of patients with skeletal dysplasia and disproportionate short stature [Volume 9, Issue 2, 2021]
Zaki, Ahmed A. A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2020]
Zaki, Maha S. Phelan–McDermid Syndrome: Expanding the Phenotype [Volume 11, Issue 2, 2022, Pages 46-53]
Zaki, Maha S Interstitial 8p deletion in two patients with the expansion of phenotype and possibility of contribution of PINX1 gene and GATA4 rs3729856 variant in absent nails [(Articles in Press)]
Zaki, Maha S. Case of autosomal-recessive spinal muscular atrophy with respiratory distress type 1 caused by compound heterozygous mutations in immunoglobulin-binding protein 2 gene: expansion in clinical features [Volume 10, Issue 2, 2022]
Zaki, Maha S. Clinical and cytogenetic analysis of terminal 22q13.3 deletion in two patients with ring chromosome 22 [Volume 7, Issue 2, 2018]
Zaki, Maha S. Corpus callosum abnormalities in 64 Egyptian patients: Neuropsychological and genetic studies [Volume 7, Issue 2, 2018]
Zaki, Maha S. Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2020]
Zaki, Moushira E. Genetic study of the association of specific language impairment to markers near gene [Volume 7, Issue 2, 2018]
Zaki, Moushira E. A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus [Volume 8, Issue 2, 2020]
Zaki, Moushira E. Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
Zamzam, Mohamed Samir Study of the Quality of Life in children and adolescents with Disorders of Sex Development (DSD) [Volume 12, Issue 1, 2023, Pages 1-14]
Zarouk, Waheba A. Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2021]