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The Middle East Journal of Medical Genetics is a peer-reviewed journal covering all aspects of Genetics particularly genetic diseases affecting populations of the Middle East. It is the official journal of the National Society of Human Genetics in association with the National Research Centre. It is published biannually by the Society and Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. The journal has an outstanding International Editorial Board and publishes peer-reviewed papers on original investigations in Clinical Genetics, Orodental Genetics, Cytogenetics, Biochemical Genetics, Immunogenetics, Molecular Genetics, and Prenatal Diagnosis. The fields of Clinical and Molecular Dysmorphology are of particular interest. Other features include review articles, editorial commentaries, short case reports, and ethical, legal and religious aspects of Human Genome Research and its applications.

Current Issue: Volume 13, Issue 1, January 2024 

Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) Gene Variants in Females with Recurrent Spontaneous Pregnancy Loss

Pages 1-8

Osama Saad Elshaer; Eman Gamal Behiry; Hesham Ali Issa; Dalia Farouk Hussen; Engy A. Ashaat; Weaam Mohammed Mohammed El-kholey; Mohammed Abd Elmaboud El Gazzar; Abeer Ramadan


Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants

Pages 9-15

Heba Amin Hassan; Mona L. Essawi; Asmaa M. Esmail; Noura R. Eissa; Mona S. Aglan; Samia A. Temtamy


Cytogenetic and Clinical Description of Maternally Inherited Pure Trisomy 4p

Pages 16-20

Ola M. Eid; Maha M. Eid; Rania M. Abdel Kader; Ghada M.H. Abdel Salam


Hot spots copy number variations, 15q methylation, and SHANK3 single nucleotide polymorphisms study in a group of Egyptian Autistic children

Pages 21-31

Rania M.A. Abdel Kader; Ola M. Eid; Amany H. Abdelrahman; Marwa Farid; Rana Mahrous; Safa N. Abd El-Fattah; Amal M. Mohamed; Fatma Hussein; Maha M. Eid; Nagwa A. Meguid


Copy Number Variation Study of A Cohort of 46,XY DSD Patients

Pages 39-49

Mona K. Mekkawy; Ola M. Eid; Shereen A. Sayed; Azza E Abd-Elnaby; Aya Elaidy; Alaa K Kamel; Inas M. Mazen