| Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency A Khattab, S Haider, A Kumar, S Dhawan, D Alam, R Romero, J Burns, ... Proceedings of the National Academy of Sciences 114 (10), E1933-E1940, 2017 | 128 | 2017 |
| Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation S Masmoudi, I Charfedine, M Hmani, M Grati, AM Ghorbel, ... American journal of medical genetics 90 (1), 38-44, 2000 | 102 | 2000 |
| Occult lymph node metastasis in laryngeal squamous cell carcinoma: therapeutic and prognostic impact M Mnejja, B Hammami, L Bougacha, A Chakroun, I Charfeddine, A Khabir, ... European annals of otorhinolaryngology, head and neck diseases 127 (5), 173-176, 2010 | 64 | 2010 |
| TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families A Tlili, IB Rebeh, M Aifa-Hmani, H Dhouib, J Moalla, J Tlili-Chouchène, ... Audiology and Neurotology 13 (4), 213-218, 2008 | 63 | 2008 |
| Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients A Amara, L Adala, IB Charfeddine, O Mamaï, A Mili, TB Lazreg, D H’mida, ... european journal of paediatric neurology 16 (2), 167-174, 2012 | 57 | 2012 |
| IL-1β and TSH disturb thyroid epithelium integrity in autoimmune thyroid diseases SA Rebuffat, M Kammoun-Krichen, I Charfeddine, H Ayadi, ... Immunobiology 218 (3), 285-291, 2013 | 56 | 2013 |
| An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation M Gribaa, M Younes, Y Bouyacoub, W Korbaa, I Ben Charfeddine, ... Journal of bone and mineral metabolism 28, 111-115, 2010 | 54 | 2010 |
| Genetic investigation of FOXE1 polyalanine tract in thyroid diseases: new insight on the role of FOXE1 in thyroid carcinoma R Kallel, S Belguith-Maalej, A Akdi, M Mnif, I Charfeddine, P Galofré, ... Cancer Biomarkers 8 (1), 43-51, 2011 | 46 | 2011 |
| Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non‐syndromic recessive hearing loss A Tlili, I Charfedine, I Lahmar, Z Benzina, B Amor Mohamed, D Weil, ... Human Mutation 25 (5), 503-503, 2005 | 46 | 2005 |
| Mutational analysis of the mitochondrial 12S rRNA and tRNASer (UCN) genes in Tunisian patients with nonsyndromic hearing loss E Mkaouar-Rebai, A Tlili, S Masmoudi, N Louhichi, I Charfeddine, ... Biochemical and biophysical research communications 340 (4), 1251-1258, 2006 | 45 | 2006 |
| Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive … H Belguith, M Aifa-Hmani, H Dhouib, MB Said, MA Mosrati, I Lahmar, ... Genetic Testing and Molecular Biomarkers 13 (1), 147-151, 2009 | 43 | 2009 |
| Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis A Bouzid, I Smeti, L Dhouib, M Roche, I Achour, A Khalfallah, AA Gibriel, ... Biomarkers 23 (4), 347-356, 2018 | 38 | 2018 |
| A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family MB Saïd, L Ayedi, M Mnejja, B Hakim, A Khalfallah, I Charfeddine, ... European journal of medical genetics 54 (6), e535-e541, 2011 | 35 | 2011 |
| A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans MA Mosrati, B Hammami, IB Rebeh, L Ayadi, L Dhouib, B Hakim, ... European journal of medical genetics 54 (5), e484-e488, 2011 | 33 | 2011 |
| A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family A Tlili, M Männikkö, I Charfedine, I Lahmar, Z Benzina, M Ben Amor, ... Human Heredity 60 (3), 123-128, 2006 | 33 | 2006 |
| Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family IB Charfeddine, FG Riepe, N Kahloul, AE Kulle, L Adala, O Mamaï, ... General and Comparative Endocrinology 175 (3), 514-518, 2012 | 32 | 2012 |
| Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population A Khalfallah, I Schrauwen, M Mnejja, H HadjKacem, L Dhouib, ... Annals of human genetics 75 (5), 598-604, 2011 | 31 | 2011 |
| Prognostic factors in metastatic nasopharyngeal carcinoma N Toumi, S Ennouri, I Charfeddine, J Daoud, A Khanfir Brazilian Journal of Otorhinolaryngology 88 (02), 212-219, 2022 | 29 | 2022 |
| Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions O Mamaï, L Boussofara, M Denguezli, N Escande-Beillard, W Kraeim, ... The Journal of investigative dermatology 135 (1), 304, 2015 | 29 | 2015 |
| Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III A Mili, I Ben Charfeddine, O Mamaï, W Cherif, L Adala, A Amara, ... Journal of human genetics 57 (3), 170-175, 2012 | 29 | 2012 |
