Mohammed Z. Seidahmed-Al Zahrani
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 38 publications
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Journal: The Journal of biological chemistry
Published: November 19, 2021
GABA transaminase deficiency. Case report and literature review.
Journal: Clinical case reports
Published: July 23, 2020
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.
Journal: American journal of medical genetics. Part A
Published: July 02, 2020
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).
Journal: BMC neurology
Published: February 05, 2020
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Journal: Human genetics
Published: November 04, 2019
The morbid genome of ciliopathies: an update.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 01, 2019
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 12, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Journal: Clinical genetics
Published: June 26, 2018
Autozygome and high throughput confirmation of disease genes candidacy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 16, 2018
Genomic and phenotypic delineation of congenital microcephaly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2018
Last Updated: 09/26/2026