Zuhair N. Hassnan-Al

Takhassusi Street, P.O. BOX 3354
Riyadh, 11211, Saudi Arabia

Last Updated: 09/26/2026

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Found 77 publications

Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.

Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.

Journal: Genes

Published: October 14, 2025

Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.

Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.

Journal: Clinical genetics

Published: July 24, 2025

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

Journal: Orphanet journal of rare diseases

Published: July 17, 2025

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Journal: The Journal of clinical investigation

Published: June 10, 2025

ZSCAN10-Deficiency Mimicking Goldenhar Syndrome.

ZSCAN10-Deficiency Mimicking Goldenhar Syndrome.

Journal: American journal of medical genetics. Part A

Published: May 22, 2025

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

Electrocardiogram screening for school children: a cross-sectional, population-based study.

Electrocardiogram screening for school children: a cross-sectional, population-based study.

Journal: Annals of Saudi medicine

Published: April 07, 2025

Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia.

Impact of glycerol phenylbutyrate on biochemistry and outcomes in paediatric patients with urea cycle disorders: a multicentre case series from Saudi Arabia.

Journal: Orphanet journal of rare diseases

Published: March 30, 2025

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway.

Journal: Brain : a journal of neurology

Published: December 15, 2024

Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.

Clinical variability in cerebrotendinous xanthomatosis (CTX): Insights from 16 cases across Gulf Cooperation Council's (GCC's) high consanguineous population.

Journal: Journal of clinical lipidology

Published: November 25, 2024

Genetic Analysis of Heterotaxy in a Consanguineous Cohort.

Genetic Analysis of Heterotaxy in a Consanguineous Cohort.

Journal: Clinical genetics

Published: July 29, 2024

Genetic variants in childhood-onset dilatation of thoracic aorta in a consanguineous population.

Genetic variants in childhood-onset dilatation of thoracic aorta in a consanguineous population.

Journal: International journal of cardiology

Published: May 07, 2024

Showing 1-12 of 77

Last Updated: 09/26/2026