Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

Volume 11, Issue 1, January 2022, Pages 1-11

Noura R. Eissa; Mona L. Essawi; Ghada M.H. Abdel-Salam; Heba A. Hassan; Ekram M. Fateen; Samia A. Temtamy


Fanconi and Non-Fanconi anemia: A Single Center Experience of A Large Egyptian Cohort

Volume 11, Issue 1, January 2022, Pages 19-28

Manal M. Thomas; Marwa Farid; Ghada Y. El-Kamah; Phoebe M. Abd El-Massieh; Peter SF Erian; Maha M. Eid


Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

Volume 11, Issue 1, January 2022, Pages 29-37

Hisham Megahed; Engy A. Ashaat; Samira Ismail; Neveen A. Ashaat; Vincent Cantagrel; Mona O. El Ruby


Health-related quality of life in Egyptian patients with familial Mediterranean fever

Volume 11, Issue 1, January 2022, Pages 38-45

Manal M. Thomas; Hala T. El-Bassyouni; Phoebe M. Abd El-Massieh; Khaled Hamed


Phelan–McDermid Syndrome: Expanding the Phenotype

Volume 11, Issue 2, July 2022, 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

Volume 11, Issue 2, July 2022, 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

Volume 11, Issue 2, July 2022, 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

Volume 11, Issue 2, July 2022, Pages 65-72

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


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

Volume 11, Issue 2, July 2022, Pages 73-74

Gowthamkarthic Ravichandhiran; Soumya Agadi


Increased LncRNA TUG1 expression level impacted ankylosing spondylitis risk, association with disability, and patients’ quality of life

Articles in Press, Accepted Manuscript, Available Online from 10 August 2023

Gehan Tawfeek; Heba esaily; Dina Fetoh


Development of mRNA vaccine against Measles virus globally

Articles in Press, Accepted Manuscript, Available Online from 24 January 2024

Mohammed M Kassab


Exploring Telomere Length in Progeroid Syndromes through Quantitative Fluorescence In-Situ Hybridization (QFISH)

Articles in Press, Accepted Manuscript, Available Online from 12 February 2024

Peter SF Erian; Ghada Y. El-Kamah; Maha Eid; Amal Mohamed


Association of anti-thyroid peroxidase antibody among Euthyroid women with adverse pregnancy outcomes

Articles in Press, Accepted Manuscript, Available Online from 27 February 2024

Mai M. Shaker; Taghreed A. Shalabi