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33 results

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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H. Charfeddine C, et al. PLoS One. 2021 Oct 20;16(10):e0258777. doi: 10.1371/journal.pone.0258777. eCollection 2021. PLoS One. 2021. PMID: 34669720 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. 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: charfeddine c. 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
Immunohistological study of involucrin expression in Darier's disease skin.
Kassar S, Charfeddine C, Zribi H, Tounsi-Kettiti H, Bchetnia M, Jerbi E, Cassio D, Mokni M, Abdelhak S, Ben Osman A, Boubaker S. Kassar S, et al. Among authors: charfeddine c. J Cutan Pathol. 2008 Jul;35(7):635-40. doi: 10.1111/j.1600-0560.2007.00880.x. Epub 2008 Feb 29. J Cutan Pathol. 2008. PMID: 18312435
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: charfeddine c. 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
33 results