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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Among authors: monastiri k. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
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: monastiri k. Clin Genet. 2016 Mar;89(3):312-9. doi: 10.1111/cge.12616. Epub 2015 Jun 10. Clin Genet. 2016. PMID: 26010040
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: monastiri k. 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
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: monastiri k. BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8. BMC Pediatr. 2018. PMID: 30157809 Free PMC article.
Molecular characterization of piebaldism in a Tunisian family.
Kerkeni E, Boubaker S, Sfar S, Bizid M, Besbes H, Bouaziz S, Ghedira N, Amara A, Manoubi W, Gribaa M, Monastiri K. Kerkeni E, et al. Among authors: monastiri k. Pathol Biol (Paris). 2015 Jun;63(3):113-6. doi: 10.1016/j.patbio.2015.03.004. Epub 2015 Apr 21. Pathol Biol (Paris). 2015. PMID: 25910686
Sanjad-Sakati syndrome in a Tunisian child.
Kerkeni E, Sakka R, Sfar S, Bouaziz S, Ghedira N, Ben Ameur K, Ben Hmida H, Chioukh FZ, Ghédira ES, Gribaa M, Monastiri K. Kerkeni E, et al. Among authors: monastiri k. Arch Pediatr. 2015 Sep;22(9):951-5. doi: 10.1016/j.arcped.2015.06.003. Epub 2015 Jul 29. Arch Pediatr. 2015. PMID: 26231322
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: monastiri k. 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
77 results