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

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

por Hashmi, Jamil A., Al-Harbi, Khalid M., Ramzan, Khushnooda, Albalawi, Alia M., Mehmood, Amir, Samman, Mohammed I., Basit, Sulman
Publicado 2016