Volume & 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