Afif Mahmoud-Ben

Doha, DA, Qatar

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 22 publications

Clinical Testing for Genetic Conditions.

Clinical Testing for Genetic Conditions.

Journal: Seminars in reproductive medicine

Published: March 11, 2026

Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome.

Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome.

Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists

Published: December 17, 2025

First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.

First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.

Journal: Journal of cellular and molecular medicine

Published: July 04, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: April 16, 2025

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Journal: Molecular diagnosis & therapy

Published: April 13, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 01, 2025

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.

Journal: International journal of molecular sciences

Published: November 28, 2024

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Journal: International journal of molecular sciences

Published: October 09, 2024

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

Bacillus amyloliquefaciens: Harnessing Its Potential for Industrial, Medical, and Agricultural Applications-A Comprehensive Review.

Bacillus amyloliquefaciens: Harnessing Its Potential for Industrial, Medical, and Agricultural Applications-A Comprehensive Review.

Journal: Microorganisms

Published: July 17, 2023

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Journal: Human mutation

Published: July 14, 2023

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.

Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.

Journal: Frontiers in psychiatry

Published: July 07, 2023

Showing 1-12 of 22

Last Updated: 09/26/2026