Faouzi Maazoul

Tunis, Tunisia

Last Updated: 09/26/2026

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Found 21 publications

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

Journal: Birth defects research

Published: September 19, 2025

Prevalence and Spectrum of Chromosomal Abnormalities in 1366 Infertile Tunisian Men: A retrospective observational study.

Prevalence and Spectrum of Chromosomal Abnormalities in 1366 Infertile Tunisian Men: A retrospective observational study.

Journal: La Tunisie medicale

Published: July 14, 2025

Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature.

Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature.

Journal: Molecular cytogenetics

Published: August 08, 2024

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Journal: Molecular genetics & genomic medicine

Published: February 08, 2022

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 28, 2021

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.

Journal: Genes

Published: September 27, 2021

Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: May 21, 2021

3M syndrome: A Tunisian seven-cases series.

3M syndrome: A Tunisian seven-cases series.

Journal: European journal of medical genetics

Published: February 01, 2021

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.

Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.

Journal: Steroids

Published: July 04, 2019

WDR73-related galloway mowat syndrome with collapsing glomerulopathy.

WDR73-related galloway mowat syndrome with collapsing glomerulopathy.

Journal: European journal of medical genetics

Published: February 22, 2018

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Journal: Cytogenetic and genome research

Published: December 01, 2017

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: April 13, 2017

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Last Updated: 09/26/2026