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Current Issue

January-June 2018| Vol 7| Issue 1

Review Article

Clinical genetics revisited: effect of new techniques (next-generation sequencing, comparative genomic hybridization) on previous diagnoses

Using Next Generation Sequencing technics, we revisited 42 personal publications on rare or firstly described syndromes. Four syndromes were found to have been erroneously classified as new, six newly...


Original Article

Risk factors in obese Egyptian women with polycystic ovary syndrome

Background Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women in the childbearing age causing metabolic anomalies. Women with PCOS present with ovulatory dysfun...


Original Article

Assessment of phenotype and genotype in neuronal ceriod lipofuscinosis among Egyptian children

Introduction Neuronal ceroid lipofuscinosis (NCLs) is a group of recessively inherited neurodegenerative disorder. It is a lysosomal storage disease caused by intracellular accumulation of aut...


Original Article

The covariant CDKN2A/B rs10811661 (C/T) gene polymorphism is associated with increased risk of type 2 diabetes mellitus in a Saudi Arabian population

Background Genome-wide association studies have linked several single nucleotide polymorphisms with type 2 diabetes mellitus (T2DM). The present case–control study explored the probable ...


Original Article

Screening for parental mitotic nondisjunction as a cause of fetal aneuploidy

Introduction Phenotypically normal adults presenting with a history of a viable a aneuploidy offspring with or without history of spontaneous abortion may have a tendency for nondisjunction in...


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Middle East Journal of Medical Genetics, a publication of National Society of Human Genetics - Egypt, is a peer-reviewed print + online Semiannual journal.

Features of Manuscript Management System

  • Online submission
  • Wider visibility through open access
  • Higher impact
  • Prompt review