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Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
Riahi Z, Zainine R, Mellouli Y, Hannachi R, Bouyacoub Y, Laroussi N, Beltaief N, Kefi R, Romdhane L, Bonnet C, Abdelhak S, Besbes G. Riahi Z, et al. Among authors: kefi r. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1481-4. doi: 10.1016/j.ijporl.2013.06.013. Epub 2013 Jul 12. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23856378 Review.
Adult Gaucher disease in southern Tunisia: report of three cases.
Ben Rhouma F, Kallel F, Kefi R, Cherif W, Nagara M, Azaiez H, Jedidi I, Elloumi M, Abdelhak S, Mseddi S. Ben Rhouma F, et al. Among authors: kefi r. Diagn Pathol. 2012 Jan 10;7:4. doi: 10.1186/1746-1596-7-4. Diagn Pathol. 2012. PMID: 22233685 Free PMC article.
Screening of three Mediterranean phenylketonuria mutations in Tunisian families.
Khemir S, Siala H, Taieb SH, Cherif W, Azzouz H, Kéfi R, Abdelhak S, Khouja N, Tebib N, Massaoud T, Ben Dridi MF, Kaabachi N. Khemir S, et al. Among authors: kefi r. J Genet. 2012;91(1):91-4. doi: 10.1007/s12041-012-0140-z. J Genet. 2012. PMID: 22546830 Free article. No abstract available.
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S. Ben Rhouma F, et al. Among authors: kefi r. Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8. Mol Biol Rep. 2013. PMID: 23649758
A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.
Riahi Z, Chahed H, Jaafoura H, Zainine R, Messaoud O, Naili M, Nagara M, Hammami H, Laroussi N, Bouyacoub Y, Kefi R, Bonnet C, Besbes G, Abdelhak S. Riahi Z, et al. Among authors: kefi r. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1485-8. doi: 10.1016/j.ijporl.2013.06.015. Epub 2013 Jul 12. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23856379
92 results