Musaad F. Abukhalid
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 8 publications
Novel ENPP1 Gene Mutation Causing Generalized Arterial Calcification of Infancy: A case report.
Journal: Neurosciences (Riyadh, Saudi Arabia)
Published: February 12, 2025
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: medRxiv : the preprint server for health sciences
Published: October 17, 2024
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: American journal of human genetics
Published: October 09, 2024
Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
Journal: Neurosciences (Riyadh, Saudi Arabia)
Published: December 21, 2022
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Journal: Human genetics
Published: October 17, 2022
Genetics of ataxia telangiectasia in a highly consanguineous population.
Journal: Annals of human genetics
Published: July 20, 2020
KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Journal: Epilepsia
Published: October 24, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026