RIAHI Awatef, KHARRAT Maher

Prevalence of BRCA1 and BRCA2 large genomic rearrangements in Tunisian high risk breast/ovarian cancer families: Implications for genetic testing, Cancer Genet, vol. 210, N° n, pp. 22-27, Janvier 2017

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, vol. in press, N° n, Septembre 2017

OUERTANI Ines, SOUABNI KRAOUA Lilia, M'RAD Ridha

Partial hypopituitarism in a female patient with a 45,X/46,XY mosaicism, ANNALES D'ENDOCRINOLOGIE, vol. 78, N° 1, pp. 56-58, Février 2017

KHARRAT Maher

Testicular adrenal rest tumours in young adult males with congenital adrenal hyperplasia: Prevalence and impact on testicular function, Andrologia, vol. 48, N° 1, pp. 45-50, Février 2016

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, vol. 11, N° n, pp. 203-209, Septembre 2017

TAJOURI Asma , MAAZOUL Faouzi, M'RAD Ridha, KHARRAT Maher

A Novel Nonsense Mutation p.L9X in the SRY Gene Causes Complete Gonadal Dysgenesis in a 46,XY Female Patient, Journal of Genetic Syndromes and Gene Therapy, vol. 7, N° 4, Mai 2016