Volume & Issue: Volume 11, Issue 2, July 2022 
| 1 | Phelan–McDermid Syndrome: Expanding the Phenotype | |
| Page 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 | |
| Page 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 | |
| Page 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 | |
| Page 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 | |
| Page 73-74 | ||
| Gowthamkarthic Ravichandhiran; Soumya Agadi | ||
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