Middle East Journal of Medical Genetics

Volume & Issue: Volume 8, Issue 2, July 2020

Genetic syndromes with premature loss of teeth: A retrospective study and a suggested classification

Mennat I. Mehrez; Nehal Hassib; Inas Sayed; Eman Aboul-Ezz; Magda I. Ramzy; Saher M. El-Hadidi; Mohmed Abdel-Kader; Nermeen El Moataz Bellah; Mona Aglan; Samira Ismail; Laila Hosny; Ghada Otaify; Rasha El-Husseini; Asmaa M. Esmail; Dina El-Desouky; Samia A. Temtamy

A study on the association between − 31T/C and − 511C/T polymorphisms in interleukin-1β gene in Egyptian patients with keratoconus

Aliaa A. El-Fattha; Amira A. AbdelAzeem; Ahmed A. Zaki; Moushira E. Zaki; Ismail A. Abdelhamid; Somaia M. Ismail

Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases

Ekram Fateen; Mohammed Akmal El Ghor; Marwa Bahaa El Deen Deen Dakroury

Beta-glucocerebrosidase gene mutation in a sample of Egyptian patients with Gaucher disease

Ekram M. Fateen; Heba M. Fathy; Abeer I. Abd El-Fattah; Hala N. Soliman; Nagham M. Elbagoury; Mona L. Essawi

A rare mutation in an Egyptian family with Sanfilippo B syndrome

Eman E. A. Mohammed; Ekram M. Fateen

Clinical, biochemical, and molecular characterization of an Egyptian group of patients with phenylketonuria and hyperphenylalaninemia: A pilot study

Shaimaa S. Ammar; Heba S. Kassem; Hoda H. Alassi; Shaimaa A. Anwar

Phenotypic correlation and molecular cytogenomic study of a patient with 9p duplication and 14q terminal deletion

Assad M. S. Elgerzawy; Alaa K. Kamel; Mona O. El Ruby; Sayda Hammad; Engy A. Ashaat; Shymaa H. Hussein; Saly G. Abd Allah; Ola M. Eid; Amal M. Mohamed

Cytogenetic study of a large cohort of patients with corpus callosum abnormalities

Dalia F. Hussen; Alaa K. Kamel; Mona Mekkawy; Amal M. Mohamed; Maha S. Zaki; Mahmoud Y. Issa; Mona O. El Ruby; Engy A. Ashaat; Samira Ismail; Khaled M. Refaat; Nivine A. Helmy