Keyword Index

B

  • Bardet-Biedl syndrome Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]
  • Bone marrow failure Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2020]

C

  • Cohesion Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
  • Cornelia de Lange syndrome Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]

D

  • Dried Blood Spot Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]

E

  • Egypt Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
  • Egyptian Families Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]

F

  • Familial Mediterranean fever Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2020]
  • Fanconi anemia Lymphocyte mosaicism in Fanconi anemia: diagnosis and clinical correlation [Volume 9, Issue 2, 2020]

G

  • Gene Genetic characterization of a patient with Cornelia de Lange syndrome with a novel missense mutation [Volume 9, Issue 1, 2020]
  • Gene Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2020]
  • Gene expression Evaluation of the gene expression in Egyptian patients with familial Mediterranean fever [Volume 9, Issue 2, 2020]
  • Gene mutations Orodental abnormalities in limb malformation syndromes: A review article [Volume 9, Issue 1, 2020]
  • Greece One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]

H

  • HUGO One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]

I

  • Interleukin-10 Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]

M

  • McKusick-Kaufman syndrome Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]
  • McKusick-Kaufman syndrome gene Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes in two Egyptian families [Volume 9, Issue 2, 2020]

N

  • NIPT Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2020]

O

  • OMIM One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]

P

  • PGD Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2020]
  • Prenatal Diagnosis Counseling challenges for prenatal diagnosis [Volume 9, Issue 2, 2020]

T

  • Tandem mass spectrometry Quantification of hemoglobin peptides in Beta-thalassemia patients using tandem mass spectrometry for future national screening program [Volume 9, Issue 1, 2020]
  • Toxoplasma Effect of interleukin-10 polymorphism on susceptibility to type I diabetes in children with latent toxoplasmosis [Volume 9, Issue 1, 2020]

V

  • Victor McKusick One hundred years since Victor McKusick's birth: a tribute from Greece [Volume 9, Issue 1, 2020]