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249 results

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Page 1
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L. Ouechtati F, et al. Among authors: abdelhak s. J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107338
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O, Rekaya MB, Ouragini H, Benfadhel S, Azaiez H, Kefi R, Gouider-Khouja N, Mokhtar I, Amouri A, Boubaker MS, Zghal M, Abdelhak S. Messaoud O, et al. Among authors: abdelhak s. Arch Dermatol Res. 2012 Mar;304(2):171-6. doi: 10.1007/s00403-011-1190-4. Epub 2011 Nov 12. Arch Dermatol Res. 2012. PMID: 22081045
Consanguinity, endogamy, and genetic disorders in Tunisia.
Ben Halim N, Ben Alaya Bouafif N, Romdhane L, Kefi Ben Atig R, Chouchane I, Bouyacoub Y, Arfa I, Cherif W, Nouira S, Talmoudi F, Lasram K, Hsouna S, Ghazouani W, Azaiez H, El Matri L, Abid A, Tebib N, Ben Dridi MF, Kachboura S, Amouri A, Mokni M, Ben Arab S, Dellagi K, Abdelhak S. Ben Halim N, et al. Among authors: abdelhak s. J Community Genet. 2013 Apr;4(2):273-84. doi: 10.1007/s12687-012-0128-7. Epub 2012 Dec 4. J Community Genet. 2013. PMID: 23208456 Free PMC article. No abstract available.
Biotinidase deficiency: novel mutations in Algerian patients.
Tiar A, Mekki A, Nagara M, Rhouma FB, Messaoud O, Halim NB, Kefi R, Hamlaoui MT, Lebied A, Abdelhak S. Tiar A, et al. Among authors: abdelhak s. Gene. 2014 Feb 15;536(1):193-6. doi: 10.1016/j.gene.2013.02.011. Epub 2013 Feb 26. Gene. 2014. PMID: 23481307
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: abdelhak s. 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
249 results