Nadia Alhashmi
Muscat, MA 111, Oman
Last Updated: 09/26/2026
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Found 10 publications
CardioVar: a machine learning framework for pathogenicity prediction of cardiomyopathy genetic variants.
Journal: Bioinformatics advances
Published: December 02, 2025
Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop-gain variant.
Journal: Journal of diabetes investigation
Published: December 11, 2024
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Journal: American journal of human genetics
Published: October 08, 2024
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Journal: American journal of medical genetics. Part A
Published: October 08, 2023
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Journal: Clinical genetics
Published: June 28, 2021
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 09, 2020
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Journal: Brain : a journal of neurology
Published: February 07, 2019
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Journal: Human genetics
Published: December 31, 2017
Expanding the phenome and variome of skeletal dysplasia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 19, 2017
Expanding the genetic heterogeneity of intellectual disability.
Journal: Human genetics
Published: July 10, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026