Ahmad M. Almatrafi

Medina, 42353, Saudi Arabia

Last Updated: 09/26/2026

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Found 13 publications

A clinical and genotype-phenotype analysis of MACF1 variants.

A clinical and genotype-phenotype analysis of MACF1 variants.

Journal: American journal of human genetics

Published: January 10, 2025

Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.

Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.

Journal: Journal of clinical medicine

Published: July 01, 2024

Expression pattern analysis of the MAGE family genes in breast cancer patients and hypomethylation activation in the MCF-7 cells.

Expression pattern analysis of the MAGE family genes in breast cancer patients and hypomethylation activation in the MCF-7 cells.

Journal: Heliyon

Published: September 20, 2023

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.

Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up.

Journal: Biomedicines

Published: September 11, 2023

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives.

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives.

Journal: Biomedicines

Published: September 09, 2023

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: June 08, 2022

A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.

A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.

Journal: American journal of medical genetics. Part A

Published: August 31, 2021

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.

Journal: Global medical genetics

Published: March 11, 2021

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Journal: PloS one

Published: September 07, 2020

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.

Journal: The journal of gene medicine

Published: February 16, 2020

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome.

Journal: Annals of dermatology

Published: April 08, 2019

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.

Journal: Genetic testing and molecular biomarkers

Published: April 02, 2019

Showing 1-12 of 13

Last Updated: 09/26/2026