Sahar A. Tulbah
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 14 publications
Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.
Journal: Clinical genetics
Published: July 24, 2025
Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome).
Journal: Orphanet journal of rare diseases
Published: November 06, 2024
Genetic Analysis of Heterotaxy in a Consanguineous Cohort.
Journal: Clinical genetics
Published: July 29, 2024
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
Journal: American journal of medical genetics. Part A
Published: March 13, 2023
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Journal: Circulation. Genomic and precision medicine
Published: September 02, 2020
A novel homozygous SCN5A variant detected in sick sinus syndrome.
Journal: Pacing and clinical electrophysiology : PACE
Published: July 02, 2020
Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.
Journal: International journal of pediatrics & adolescent medicine
Published: October 31, 2018
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Journal: Molecular genetics and metabolism reports
Published: November 29, 2017
Polymorphisms in RAD51 and their relation with breast cancer in Saudi females.
Journal: OncoTargets and therapy
Published: February 03, 2016
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
Journal: BMC medical genetics
Published: February 27, 2015
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Journal: Journal of medical genetics
Published: December 26, 2014
Last Updated: 09/26/2026