Keyword Index

A

  • Aggressive Periodontitis Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification [Volume 8, Issue 2, 2019]
  • ALU 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]
  • Array CGH Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion [Volume 8, Issue 2, 2019]

B

  • Body Image Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]

C

  • Chimerism Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]
  • Chromosomal abnormalities Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2019]
  • Cytokines 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, 2019]

D

  • D312N mutation A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]
  • DNA damage Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]
  • DNA repeat elements 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]
  • Dried Blood Spot Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]

F

  • Facial Palsy A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2019]
  • Familial Mediterranean fever 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, 2019]

G

  • Gaucher disease Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]
  • Gaucher disease Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2019]
  • Gaucher disease in Egypt Prenatal counseling and diagnosis of Gaucher disease in Egypt: an 18-year experience [Volume 8, Issue 1, 2019]
  • GBA Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease [Volume 8, Issue 2, 2019]
  • Genetic Bone-specific therapeutic modalities for genetic skeletal diseases [Volume 8, Issue 2, 2019]
  • Genotyping 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, 2019]

H

  • Hyperphenylalaninemia Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2019]

I

  • Intellectual Disability Cytogenetic study of a large cohort of patients with corpus callosum abnormalities [Volume 8, Issue 2, 2019]
  • Intelligence Quotient Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2019]

K

  • Keratoconus 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, 2019]

L

  • L1 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]
  • Lalistat 2 Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]

M

  • M680I 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, 2019]
  • M694I 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, 2019]
  • Moebius syndrome A report of four patients with Moebius syndrome: New oral anomalies and challenges in dental management [Volume 8, Issue 2, 2019]
  • Mucopolysaccharidosis IIIB A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]

N

  • NAGLU gene A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]
  • Niemann-Pick disease Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]

O

  • Obesity Body image, Anxiety, Depression and DNA damage in Obese Egyptian Women [Volume 8, Issue 1, 2019]

P

  • Phenylketonuria Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study [Volume 8, Issue 2, 2019]
  • Polymorphism 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, 2019]

R

  • Recurrent spontaneous abortion Chromosomal aberrations and chromosomal heteromorphisms among young couples with recurrent spontaneous abortion [Volume 8, Issue 1, 2019]

S

  • Sanfilippo B syndrome A rare mutation in an Egyptian family with Sanfilippo B syndrome [Volume 8, Issue 2, 2019]

T

  • T helper cells 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, 2019]
  • Therapeutic modalities Bone-specific therapeutic modalities for genetic skeletal diseases [Volume 8, Issue 2, 2019]
  • Torg syndrome A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]

W

  • Winchester syndrome A novel matrix metalloproteinase-2 mutation in two Egyptian siblings with Winchester syndrome [Volume 8, Issue 1, 2019]
  • Wolman disease Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases [Volume 8, Issue 2, 2019]