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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 11, Issue 2, July 2022 

Phelan–McDermid Syndrome: Expanding the Phenotype

Pages 46-53

Hala T. El-Bassyouni; Ola M. Eid; Samira Ismail; Mona O. El-Ruby; Engy A. Ashaat; Rana Mahrous; Shymaa H. Hussein; Alaa K. Kamel; Maha S. Zaki; Khaled Hamed; Doaa R. Soliman; Ramy Mohamed; Amal M. Mohamed


A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Pages 54-57

Asmaa E. Elkhouly; Mahmoud A. Amer; Somaia Ismail; Mahmoud Y. Issa; Khaled Hamed; Mohamed S. Abdel-Hamid; Ahmed A. Baiomy


Trials for Implementing Cost-effective Fanconi Anemia (FA) Molecular Diagnosis

Pages 58-64

Sahar Sabry; Rehab M. Mosaad; Khaled Hamed; Maha M. Eid; Khalda S. Amr; Ghada Y. El-Kamah


Prenatal Screening of Sialic Acid-Storage Disease in Nonimmune Hydrops Fetalis

Pages 65-72

Heba E. Abozid; Amr S. Gouda; Mohamed A. El Noury; Jehan A. Sharnoubi; Walaa S. Nazim; Khaled R. Gaber