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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R, Riahi Z, Charfeddine C, Chelly I, Boudabbous H, Dallali H, Bonnet C, Hechmi M, Bekri S, Zitouna N, Zekri L, Tounsi A, Kefi R, Marrakchi J, Messaoud O, Kraoua I, Maalej S, Turki Ben Youssef I, Ben Hmid A, Giraudet F, Bouchoucha S, Tebib N, Besbes G, Petit C, Mrad R, Abdelhak S, Trabelsi M. Mkaouar R, et al. Among authors: abdelhak s. PLoS One. 2021 Oct 6;16(10):e0258202. doi: 10.1371/journal.pone.0258202. eCollection 2021. PLoS One. 2021. PMID: 34614013 Free PMC article.
Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.
Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S. Charfeddine C, et al. Among authors: abdelhak s. Mol Genet Metab. 2006 Jun;88(2):184-91. doi: 10.1016/j.ymgme.2006.02.006. Epub 2006 Mar 30. Mol Genet Metab. 2006. PMID: 16574453
Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
Barkaoui E, Cherif W, Tebib N, Charfeddine C, Ben Rhouma F, Azzouz H, Ben Chehida A, Monastiri K, Chemli J, Amri F, Ben Turkia H, Abdelmoula MS, Kaabachi N, Abdelhak S, Ben Dridi MF. Barkaoui E, et al. Among authors: abdelhak s. J Inherit Metab Dis. 2007 Nov;30(6):989. doi: 10.1007/s10545-007-0737-1. Epub 2007 Nov 19. J Inherit Metab Dis. 2007. PMID: 18008183
Histological characterization of Darier's disease in Tunisian families.
Kassar S, Tounsi-Kettiti H, Charfeddine C, Zribi H, Bchetnia M, Jerbi E, Mokni M, Ben Osman A, Abdelhak S, Boubaker S. Kassar S, et al. Among authors: abdelhak s. J Eur Acad Dermatol Venereol. 2009 Oct;23(10):1178-83. doi: 10.1111/j.1468-3083.2009.03283.x. Epub 2009 May 26. J Eur Acad Dermatol Venereol. 2009. PMID: 19486234
New mutations of Darier disease in Tunisian patients.
Bchetnia M, Benmously R, Ben Brick AS, Charfeddine C, Ben Ameur Y, Fajraoui M, Debbiche A, Ben Ayed M, Mokni M, Fenniche S, Mokhtar I, Abdelhak S. Bchetnia M, et al. Among authors: abdelhak s. Arch Dermatol Res. 2009 Sep;301(8):615-9. doi: 10.1007/s00403-009-0963-5. Epub 2009 Jun 2. Arch Dermatol Res. 2009. PMID: 19488774
245 results