Kheloud M. Alhamoudi

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 13 publications

Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause.

Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause.

Journal: Frontiers in endocrinology

Published: March 19, 2026

Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population.

Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian Population.

Journal: Thyroid : official journal of the American Thyroid Association

Published: October 29, 2025

A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.

A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.

Journal: Heliyon

Published: July 14, 2024

How do BRAFV600E and TERT promoter mutations interact with the ATA and TNM staging systems in thyroid cancer?

How do BRAFV600E and TERT promoter mutations interact with the ATA and TNM staging systems in thyroid cancer?

Journal: Frontiers in endocrinology

Published: August 01, 2023

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.

A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 08, 2022

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant.

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant.

Journal: Frontiers in genetics

Published: February 28, 2022

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish.

Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish.

Journal: Frontiers in cell and developmental biology

Published: July 06, 2021

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.

Journal: Genes

Published: December 27, 2020

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.

Journal: Scientific reports

Published: July 30, 2020

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

Journal: Clinical genetics

Published: July 15, 2020

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.

Journal: Annals of clinical and translational neurology

Published: February 16, 2020

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.

Journal: BMC pulmonary medicine

Published: January 16, 2020

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Last Updated: 09/26/2026