Mustafa A. Salih

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 111 publications

Editorial: Rare genetic disorders associated with intellectual disability.

Editorial: Rare genetic disorders associated with intellectual disability.

Journal: Frontiers in psychiatry

Published: January 20, 2026

Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy.

Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy.

Journal: Molecular therapy. Nucleic acids

Published: December 04, 2025

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Histomorphometric Analysis of the Human Umbilical Cord and Its Vessels in Pregnant Women with Anemia: A Case-Control Study.

Histomorphometric Analysis of the Human Umbilical Cord and Its Vessels in Pregnant Women with Anemia: A Case-Control Study.

Journal: Nigerian journal of clinical practice

Published: September 26, 2024

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.

Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblings.

Journal: Frontiers in psychiatry

Published: September 24, 2024

Editorial: Consanguinity and rare genetic neurological diseases.

Editorial: Consanguinity and rare genetic neurological diseases.

Journal: Frontiers in neurology

Published: September 10, 2024

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Sodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.

Journal: American journal of medical genetics. Part A

Published: August 08, 2024

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Journal: medRxiv : the preprint server for health sciences

Published: May 27, 2024

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

Journal: Neurogenetics

Published: May 03, 2024

Effect of Air Pollutants Particulate Matter PM2.5, PM10, Carbon Monoxide (CO), Nitrogen Dioxide (NO2), Sulfur Dioxide (SO2), and Ozone (O3) on Fractional Exhaled Nitric Oxide (FeNO).

Effect of Air Pollutants Particulate Matter PM2.5, PM10, Carbon Monoxide (CO), Nitrogen Dioxide (NO2), Sulfur Dioxide (SO2), and Ozone (O3) on Fractional Exhaled Nitric Oxide (FeNO).

Journal: Pakistan journal of medical sciences

Published: February 10, 2024

Environmental pollutants PM2.5, PM10, carbon monoxide (CO), nitrogen dioxide (NO2), sulfur dioxide (SO2), and ozone (O3) impair human cognitive functions.

Environmental pollutants PM2.5, PM10, carbon monoxide (CO), nitrogen dioxide (NO2), sulfur dioxide (SO2), and ozone (O3) impair human cognitive functions.

Journal: European review for medical and pharmacological sciences

Published: February 02, 2024

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Journal: EMBO molecular medicine

Published: January 09, 2024

Showing 1-12 of 111

Last Updated: 09/26/2026