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

by Jamil A. Hashmi, Khalid M. Al-Harbi, Khushnooda Ramzan, Alia M. Albalawi, Amir Mehmood, Mohammed I. Samman, Sulman Basit
Published 2016-11-01

Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy

by Atiyeh M Abdallah, S. Justin Carlus, Abdulhadi H Al-Mazroea, Mohammad Alluqmani, Yousef Almohammadi, Zahurul A Bhuiyan, Khalid M Al-Harbi
Published 2019-01-01