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Page 1
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A. Ghedira N, et al. Among authors: abdelhak s. BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8. BMC Pediatr. 2018. PMID: 30157809 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
Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
Cherif W, Rhouma FB, Chehida AB, Azzouz H, Monastiri K, Amri F, Chemli J, Kaabachi N, Abdelhak S, Tebib N, Dridi MF. Cherif W, et al. Among authors: abdelhak s. Pathol Biol (Paris). 2011 Aug;59(4):e93-6. doi: 10.1016/j.patbio.2009.05.004. Epub 2009 Nov 5. Pathol Biol (Paris). 2011. PMID: 19896294
Genetic diseases in the Tunisian population.
Romdhane L, Abdelhak S; Research Unit on Molecular Investigation of Genetic Orphan Diseases; Collaborators. Romdhane L, et al. Among authors: abdelhak s. Am J Med Genet A. 2011 Jan;155A(1):238-67. doi: 10.1002/ajmg.a.33771. Am J Med Genet A. 2011. PMID: 21204241 Review.
Study of the T16189C variant and mitochondrial lineages in Tunisian and overall Mediterranean region.
Hsouna S, Ben Halim N, Lasram K, Meiloud G, Arfa I, Kerkeni E, Romdhane L, Jamoussi H, Bahri S, Ben Ammar S, Abid A, Barakat A, Houmeida A, Abdelhak S, Kefi R. Hsouna S, et al. Among authors: abdelhak s. Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27(2):1558-63. doi: 10.3109/19401736.2014.953136. Epub 2015 Sep 4. Mitochondrial DNA A DNA Mapp Seq Anal. 2016. PMID: 25208176
Comorbidity in the Tunisian population.
Romdhane L, Messaoud O, Bouyacoub Y, Kerkeni E, Naouali C, Cherif Ben Abdallah L, Tiar A, Charfeddine C, Monastiri K, Chabchoub I, Hachicha M, Tadmouri GO, Romeo G, Abdelhak S. Romdhane L, et al. Among authors: abdelhak s. Clin Genet. 2016 Mar;89(3):312-9. doi: 10.1111/cge.12616. Epub 2015 Jun 10. Clin Genet. 2016. PMID: 26010040
Association of genetic variants in the FTO gene with metabolic syndrome: A case-control study in the Tunisian population.
Elouej S, Nagara M, Attaoua R, Sallem OK, Rejeb I, Hsouna S, Lasram K, Halim NB, Chargui M, Jamoussi H, Turki Z, Kamoun I, Belfki-Benali H, Abid A, Slama CB, Bahri S, Triki D, Romdhane HB, Abdelhak S, Kefi R, Grigorescu F. Elouej S, et al. Among authors: abdelhak s. J Diabetes Complications. 2016 Mar;30(2):206-11. doi: 10.1016/j.jdiacomp.2015.11.013. Epub 2015 Nov 14. J Diabetes Complications. 2016. PMID: 26700404
249 results