Amerh S. Alqahtani

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 8 publications

Breaking new ground: Exploring de novo chromosomal rearrangements in 1p36 microdeletion.

Breaking new ground: Exploring de novo chromosomal rearrangements in 1p36 microdeletion.

Journal: International journal of health sciences

Published: July 08, 2024

Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis.

Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis.

Journal: Saudi journal of medicine & medical sciences

Published: March 17, 2024

Reclassifying variations of unknown significance in diseases affecting Saudi Arabia's population reveal new associations.

Reclassifying variations of unknown significance in diseases affecting Saudi Arabia's population reveal new associations.

Journal: Frontiers in genetics

Published: June 29, 2023

Prospect of genetic disorders in Saudi Arabia.

Prospect of genetic disorders in Saudi Arabia.

Journal: Frontiers in genetics

Published: June 20, 2023

The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia.

The perception of genetic diseases and premarital screening tests in the central region of Saudi Arabia.

Journal: BMC public health

Published: April 08, 2023

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Journal: European journal of medical genetics

Published: March 16, 2020

Efficacy of low dose nitisinone in the management of alkaptonuria.

Efficacy of low dose nitisinone in the management of alkaptonuria.

Journal: Molecular genetics and metabolism

Published: April 27, 2019

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Journal: Molecular genetics & genomic medicine

Published: January 31, 2019

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Last Updated: 09/26/2026