Hind K. Alsharhan

Hind K. Alsharhan

Medical Genetics

600 North Wolfe Street, Blalock 1008 Medical Genetics
Blalock 1008 Medical Genetics
Baltimore, MD 21287

Last Updated: 09/26/2026

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Found 24 publications

Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.

Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in Kuwait.

Journal: Global medical genetics

Published: March 18, 2026

A genomics health strategy for the Arabian Gulf.

A genomics health strategy for the Arabian Gulf.

Journal: Nature medicine

Published: March 04, 2026

Clinical and Genetic Spectrum of SCN8A-Related Disorders: A Retrospective Study From the Gulf Region.

Clinical and Genetic Spectrum of SCN8A-Related Disorders: A Retrospective Study From the Gulf Region.

Journal: Journal of child neurology

Published: December 01, 2025

A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.

A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.

Journal: Molecular genetics & genomic medicine

Published: September 18, 2025

SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.

SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait.

Journal: Molecular genetics and metabolism reports

Published: September 07, 2025

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.

Journal: American journal of medical genetics. Part A

Published: August 14, 2025

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

Journal: American journal of medical genetics. Part A

Published: June 21, 2025

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.

Cardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.

Journal: American journal of medical genetics. Part A

Published: February 26, 2025

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Insights from the Newborn Screening Program for Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait.

Journal: International journal of neonatal screening

Published: January 24, 2025

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.

Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening.

Journal: Frontiers in pediatrics

Published: January 24, 2024

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Journal: Neurology. Genetics

Published: January 16, 2024

Showing 1-12 of 24

Last Updated: 09/26/2026