Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome

by Mohamed S. Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani
Published 2015-01-01

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

by Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, Naeema Al-Yarubi, Patrick Scott
Published 2018-01-01