Abdullah H. Alfalah

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 11 publications

Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.

Biallelic STEAP3 Variant in Neonatal Hemophagocytic Lymphohistiocytosis.

Journal: Clinical genetics

Published: November 17, 2025

Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.

Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.

Journal: Prenatal diagnosis

Published: September 11, 2025

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Journal: Genes

Published: June 11, 2025

ZSCAN10-Deficiency Mimicking Goldenhar Syndrome.

ZSCAN10-Deficiency Mimicking Goldenhar Syndrome.

Journal: American journal of medical genetics. Part A

Published: May 22, 2025

Biallelic OSM deficiency presents with juvenile myelodysplastic syndrome and response to treatment.

Biallelic OSM deficiency presents with juvenile myelodysplastic syndrome and response to treatment.

Journal: The Journal of clinical investigation

Published: May 01, 2025

Novel biallelic variants expand the phenotype of NAA20-related syndrome.

Novel biallelic variants expand the phenotype of NAA20-related syndrome.

Journal: Clinical genetics

Published: March 01, 2023

Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Journal: European journal of medical genetics

Published: January 24, 2023

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.

Journal: Genes

Published: November 03, 2022

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Journal: Human genetics

Published: September 30, 2022

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

Journal: European journal of medical genetics

Published: March 01, 2022

Further delineation of HIDEA syndrome.

Further delineation of HIDEA syndrome.

Journal: American journal of medical genetics. Part A

Published: April 10, 2020

Showing 1-11 of 11

Last Updated: 09/26/2026