Saad M. Alshahwan

Riyadh, 11159, Saudi Arabia

Last Updated: 09/26/2026

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Found 15 publications

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Journal: Neurogenetics

Published: November 28, 2023

Problem-solving in clinical practice: breathing difficulty and muscle weakness following allogeneic haematopoietic stem cell transplantation.

Problem-solving in clinical practice: breathing difficulty and muscle weakness following allogeneic haematopoietic stem cell transplantation.

Journal: Archives of disease in childhood. Education and practice edition

Published: March 22, 2019

Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter.

Novel Homozygous Mutation of the AIMP1 Gene: A Milder Neuroimaging Phenotype With Preservation of the Deep White Matter.

Journal: Pediatric neurology

Published: July 25, 2018

Autozygome and high throughput confirmation of disease genes candidacy.

Autozygome and high throughput confirmation of disease genes candidacy.

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

Published: March 16, 2018

Genomic and phenotypic delineation of congenital microcephaly.

Genomic and phenotypic delineation of congenital microcephaly.

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

Published: March 14, 2018

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Journal: Human genetics

Published: May 30, 2017

Congenital disorders of glycosylation: The Saudi experience.

Congenital disorders of glycosylation: The Saudi experience.

Journal: American journal of medical genetics. Part A

Published: March 24, 2017

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

Journal: Molecular genetics and metabolism

Published: January 15, 2017

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

Journal: Pediatric neurology

Published: December 12, 2016

Characterizing the morbid genome of ciliopathies.

Characterizing the morbid genome of ciliopathies.

Journal: Genome biology

Published: August 29, 2016

Sepiapterin reductase deficiency: Report of 5 new cases.

Sepiapterin reductase deficiency: Report of 5 new cases.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 29, 2016

Acute psychosis in children: do not miss immune-mediated causes.

Acute psychosis in children: do not miss immune-mediated causes.

Journal: Neurosciences (Riyadh, Saudi Arabia)

Published: July 01, 2016

Showing 1-12 of 15

Last Updated: 09/26/2026