Update on the genetics of bardet-biedl syndrome O M'hamdi, I Ouertani, H Chaabouni-Bouhamed Molecular Syndromology 5 (2), 51-56, 2014 | 155 | 2014 |
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes C Redin, S Le Gras, O Mhamdi, V Geoffroy, C Stoetzel, MC Vincent, ... Journal of medical genetics 49 (8), 502-512, 2012 | 136 | 2012 |
Comprehensive PKD1 and PKD2 mutation analysis in prenatal autosomal dominant polycystic kidney disease MP Audrézet, C Corbiere, S Lebbah, V Morinière, F Broux, F Louillet, ... Journal of the American Society of Nephrology 27 (3), 722-729, 2016 | 94 | 2016 |
Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis O M'hamdi, C Redin, C Stoetzel, I Ouertani, M Chaabouni, F Maazoul, ... Clinical Genetics 85 (2), 172-177, 2014 | 40 | 2014 |
Prevalence of Bardet–Biedl syndrome in Tunisia O M’hamdi, I Ouertani, F Maazoul, H Chaabouni-Bouhamed Journal of community genetics 2, 97-99, 2011 | 39 | 2011 |
Analyse génétique du syndrome de Turner: étude tunisienne de 89 cas Genetic analysis of Turner syndrome: 89 cases in Tunisia I Kammoun, M Chaabouni, M Trabelsi, I Ouertani, L Kraoua, I Chelly, ... Annales d’Endocrinologie 69, 440-445, 2008 | 30 | 2008 |
WDR73-related Galloway Mowat syndrome with collapsing glomerulopathy M El Younsi, L Kraoua, R Meddeb, M Ferjani, M Trabelsi, I Ouertani, ... European Journal of Medical Genetics 62 (9), 103550, 2019 | 11 | 2019 |
Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report L Kraoua, M Chaabouni, E Ewers, I Chelly, I Ouertani, LB Jemaa, ... European journal of medical genetics 54 (4), e446-e450, 2011 | 10 | 2011 |
Perinatal-lethal Gaucher disease presenting as hydrops fetalis E BenHamida, I Ayadi, I Ouertani, M Chammem, A Bezzine, R BenTmime, ... Pan African Medical Journal 21 (1), 2015 | 8 | 2015 |
3M syndrome: A Tunisian seven-cases series K Khachnaoui-Zaafrane, I Ouertani, A Zanati, H Kandara, F Maazoul, ... European Journal of Medical Genetics 65 (3), 104448, 2022 | 7 | 2022 |
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients M Trabelsi, M Nouira, F Maazoul, L Kraoua, R Meddeb, I Ouertani, ... International Journal of Pediatric Otorhinolaryngology 103, 14-19, 2017 | 5 | 2017 |
Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy M Trabelsi, I Chelly, F Maazoul, M Chaabouni, I Ouertani, L Kraoua, ... European Journal of Medical Genetics 56 (1), 13-19, 2013 | 4 | 2013 |
Clinical and molecular cytogenetic study of 38 Williams-Beuren Syndrome Tunisian patients I Ouertani, M Chaabouni, I Chelly, L Kraoua, F Maazoul, M Trabelsi, ... Open Journal of Genetics 4 (5), 385-391, 2014 | 3 | 2014 |
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis M El Younsi, M Trabelsi, S Ben Youssef, I Ouertani, Y Hammi, A Achour, ... Pediatric Nephrology 38 (1), 119-129, 2023 | 2 | 2023 |
Complete Trisomy 9 with unusual phenotypic associations. B Slama, I Ouertani, K Dimassi, D Bacha, A Lahmar, S Mzabi La Tunisie Medicale 94 (12), 895-895, 2016 | 2 | 2016 |
A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia I Ouertani, M Chaabouni, I Turki, M Lelorc'h, T Attié-Bitach, LB Jemaa, ... European journal of medical genetics 52 (4), 256-259, 2009 | 2 | 2009 |
Partial Trisomy 4p Syndrome Diagnosed Prenatally K Nasri, N Ben Jamaa, I Ouertani, N Boujelben Fetal and Pediatric Pathology 43 (2), 188-195, 2024 | 1 | 2024 |
What is the Impact of Genetic Counseling and Prenatal Diagnosis in Genetic Diseases Prevention in an Arab Muslim Population? HC Bouhamed, M Chaabouni, I Chelly, I Ouertani, LB Jemaa, R Mrad, ... 2nd Pan Arab Human Genetics Conference, 50-5, 0 | 1 | |
Clinical and molecular characteristics of 44 Tunisian patients with Angelman Syndrome H Fredj, A Azaza, L Kraoua, A Achour, H Klaa, I Kraoua, M Trigui, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 229-229, 2022 | | 2022 |
Down syndrome with an inherited translocation t (6; 21)(q13; q22) R Kammoun, I Boujelbene, I Ben Ayed, N Gharbi, MA Ksentini, I Ouertani, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 445-445, 2022 | | 2022 |