TRIFI CHOGRANI Manel, OUERTANI Ines, MAAZOUL Faouzi

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family, Clinical Genetics, n, n, Octobre 2014

M'HAMDI Oussama, OUERTANI Ines, MAAZOUL Faouzi, M'RAD Ridha

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis, Clinical Genetics, 85, 2, Juin 2014

WALHA TRABELSI Mediha , CHELLY Imen, MAAZOUL Faouzi, OUERTANI Ines, SOUABNI KRAOUA Lilia, M'RAD Ridha

Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy, European Journal of Medical Genetics, 56, 1, Janvier 2013

TAJOURI Asma , BEN HMIDA BOUJELBANE Salma , MAAZOUL Faouzi, M'RAD Ridha, Kharrat Maher

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis, Sexual development, 11, n, 203-209, Septembre 2017

WALHA TRABELSI Mediha , MAAZOUL Faouzi, M'RAD Ridha

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness, international Journal of Pediatric Otorhinolaryngology, 77, 5, Mai 2013

TRIFI CHOGRANI Manel, MAAZOUL Faouzi

Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families, Open Journal of Ophthalmology , 2, 3, Août 2012

WALHA TRABELSI Mediha , MAAZOUL Faouzi, SOUABNI KRAOUA Lilia, SAADA MEDDEB Rym, OUERTANI Ines, CHELLY Imen, M'RAD Ridha

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients, international Journal of Pediatric Otorhinolaryngology, in press, n, Septembre 2017

WALHA TRABELSI Mediha , KHARRAT Maher, MAAZOUL Faouzi, M'RAD Ridha

Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian population, Pathologie Biologie, n, n, Juin 2012

DAGHSNI Marwa, KELMEMI Wided, SOUABNI KRAOUA Lilia, MAAZOUL Faouzi, M'RAD Ridha

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy ?, Cytogenetic and Genome Research , 154, 1, 1-5, Février 2018

EL YOUNSI Meriem, SOUABNI KRAOUA Lilia, SAADA MEDDEB Rym, WALHA TRABELSI Mediha , OUERTANI Ines, MAAZOUL Faouzi, M'RAD Ridha

WDR73-related galloway mowat syndrome with collapsing glomerulopathy, European Journal of Scientific Research , n, n, Octobre 2018