Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up

por Almatrafi, Ahmad M., Alluqmani, Majed M., Basit, Sulman
Publicado 2023

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

por Albalawi, Alia M., Hashmi, Jamil A., Alfadhli, Fatima, Almatrafi, Ahmad, Ramzan, Khushnooda, Basit, Sulman
Publicado 2020

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation

por Almatrafi, Ahmad, Hashmi, Jamil A., Fadhli, Fatima, Alharbi, Asma, Afzal, Sibtain, Ramzan, Khushnooda, Basit, Sulman
Publicado 2020

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

por Albarry, Maan Abdullah, Latif, Muhammad, Alreheli, Ahdab Qasem, Awadh, Mohammed A., Almatrafi, Ahmad M., Albalawi, Alia M., Basit, Sulman
Publicado 2021

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives

por Mahrous, Nahed N., Jamous, Yahya F., Almatrafi, Ahmad M., Fallatah, Deema I., Theyab, Abdulrahman, Alanati, Bayan H., Alsagaby, Suliman A., Alenazi, Munifa K., Khan, Mohammed I., Hawsawi, Yousef M.
Publicado 2023