Seham Alameer
Jeddah, Saudi Arabia
Last Updated: 09/26/2026
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Found 16 publications
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Journal: Pediatric neurology
Published: October 04, 2022
Diagnostic comparison between cord blood and filter paper for the screening of congenital hypothyroidism.
Journal: Journal of clinical laboratory analysis
Published: October 15, 2021
The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.
Journal: Molecular genetics and metabolism reports
Published: September 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Journal: Journal of clinical immunology
Published: April 16, 2021
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 01, 2020
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
Journal: EMBO molecular medicine
Published: April 29, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Journal: Brain : a journal of neurology
Published: January 24, 2020
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 09, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 16, 2018
Last Updated: 09/26/2026