Amal M. Al Hashem

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 publications

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 13, 2025

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 13, 2025

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 18, 2023

The prevalence and phenotypic range associated with biallelic PKDCC variants.

The prevalence and phenotypic range associated with biallelic PKDCC variants.

Journal: Clinical genetics

Published: November 30, 2022

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Journal: American journal of human genetics

Published: June 04, 2019

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Journal: Seizure

Published: October 17, 2018

A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.

A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.

Journal: Neurosciences (Riyadh, Saudi Arabia)

Published: April 18, 2018

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

Journal: Clinical genetics

Published: April 16, 2018

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

Journal: Child neurology open

Published: September 21, 2017

Characterizing the morbid genome of ciliopathies.

Characterizing the morbid genome of ciliopathies.

Journal: Genome biology

Published: August 29, 2016

Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects - Results from a nested case-control study.

Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects - Results from a nested case-control study.

Journal: Preventive medicine reports

Published: February 05, 2016

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

Journal: Journal of medical genetics

Published: January 08, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026