Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic...

by Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed M. Jan, Adeel G. Chaudhary, Shatha Alharazy, Mohammad H. AlQahtani
Published 2020-11-01

Association of SNPs in GC and CYP2R1 with total and directly measured free 25-hydroxyvitamin D in multi-ethnic postmenopausal women in Saudi Arabia

by Shatha Alharazy, Muhammad Imran Naseer, Eman Alissa, M. Denise Robertson, Susan Lanham-New, Mohammad H. Alqahtani, Adeel G. Chaudhary
Published 2021-08-01

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

by Muhammad Imran Naseer, Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Francisco J. Guzmán-Vega, Francisco J. Guzmán-Vega, Stefan T. Arold, Stefan T. Arold, Peter Natesan Pushparaj, Peter Natesan Pushparaj, Adeel G. Chaudhary, Adeel G. Chaudhary, Adeel G. Chaudhary, Mohammad H. AlQahtani, Mohammad H. AlQahtani
Published 2020-05-01