EKB Journal Management System
1.

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
2.

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
3.

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
4.

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
5.

The Need for Continuous Genomic Surveillance for Early Diagnosis of Novel Virus Infection

Pages 73-74
Gowthamkarthic Ravichandhiran; Soumya Agadi