OUERTANI Ines

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes, Journal of Medical Genetics, vol. 49, N° 8, Août 2012

SOUABNI KRAOUA Lilia

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia, American Journal of Medical Genetics Part A, vol. 158A, N° 10, Octobre 2012

SOUABNI KRAOUA Lilia

Pseudoaminopterin syndrome, American Journal of Medical Genetics Part A, vol. 158A, N° 9, Septembre 2012

RIAHI Awatef, KHARRAT Maher

Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia, Clinical Genetics, vol. 87, N° n, Décembre 2013

SOUABNI KRAOUA Lilia

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature, Neuropediatrics, vol. 44, N° 5, Octobre 2013

WALHA TRABELSI Mediha , MAAZOUL Faouzi, M'RAD Ridha

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