Afif Ben‐Mahmoud

Publications

Citations

H-Index

2017

Active since

Affiliations

United Arab Emirates University(Current)

Afif Ben‐Mahmoud is an author at United Arab Emirates University specializing in developmental biology, molecular genetics, and developmental disabilities.

ORCID

Top concepts

GeneticsMedicineMolecular GeneticsDevelopmental BiologyDevelopmental Disabilities

Publications per year

2017–2023

Publications

A novel aberrant splice site mutation in <i>COL27A1</i> is responsible for Steel syndrome and extension of the phenotype to include hearing loss

Nesrin Gariballa, Afif Ben‐Mahmoud, Makanko Komara et al. · American Journal of Medical Genetics Part A · 2017 · 23 citations

A <i>B3GALT6</i> variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations

Afif Ben‐Mahmoud, Salma Ben‐Salem, M. Al‐Sorkhy et al. · Clinical Genetics · 2018 · 16 citations

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

Vijay Gupta, Afif Ben‐Mahmoud, Bonsu Ku et al. · Frontiers in Psychiatry · 2023 · 13 citations · Full text

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Afif Ben‐Mahmoud, Aisha Al‐Shamsi, Bassam R. Ali et al. · Journal of Molecular Neuroscience · 2019 · 12 citations

Intellectual Impairment, Developmental Biology, Genetic Disorder +5

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