Mahmoud T. Ali

Dubai, DU, United Arab Emirates

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 30 publications

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.

Journal: Frontiers in genetics

Published: March 01, 2023

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Journal: Journal of neuromuscular diseases

Published: October 04, 2021

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Journal: Genes

Published: September 07, 2021

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.

Journal: Molecular syndromology

Published: February 05, 2021

SOX11-related syndrome: report on a new case and review.

SOX11-related syndrome: report on a new case and review.

Journal: Clinical dysmorphology

Published: October 21, 2020

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.

Journal: American journal of medical genetics. Part A

Published: March 22, 2020

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Journal: Journal of pediatric genetics

Published: May 19, 2019

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.

Journal: Molecular syndromology

Published: May 11, 2019

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Journal: European journal of medical genetics

Published: September 12, 2018

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Journal: Molecular syndromology

Published: August 29, 2018

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Journal: Molecular genetics & genomic medicine

Published: July 17, 2018

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Journal: European journal of medical genetics

Published: March 20, 2018

Showing 1-12 of 30

Last Updated: 09/26/2026