Publications by authors named "Mohammad Al-Owain"

11Publications

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Am J Hum Genet 2019 11 17;105(5):1016-1022. Epub 2019 Oct 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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November 2019

Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.

Am J Hum Genet 2019 06 9;104(6):1202-1209. Epub 2019 May 9.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh 11533, Saudi Arabia. Electronic address:

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June 2019

GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

Am J Med Genet A 2011 Jun 12;155A(6):1281-4. Epub 2011 May 12.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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June 2011

ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.

J Clin Immunol 2011 Apr 1;31(2):245-52. Epub 2010 Dec 1.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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April 2011

Interstitial del(20)(q11.2q12) - clinical and molecular cytogenetic characterization.

Am J Med Genet A 2007 Aug;143A(16):1880-4

Cytogenetics and Molecular Cytogenetics, Department of Pathology and Laboratory Medicine, Saudi Arabia.

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August 2007