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Page 1
Thiamine responsive megaloblastic anemia mimicking mitochondrial disorders.
Tinsa F, Hechmi M, Hadj IB, Khalsi F, Chargui M, Kefi R, Azouz H, Boussetta K, Abdelhak S. Tinsa F, et al. Rev Neurol (Paris). 2019 May;175(5):324-327. doi: 10.1016/j.neurol.2018.07.008. Epub 2019 Jan 3. Rev Neurol (Paris). 2019. PMID: 30612703 No abstract available.
A novel large deletion in CCM1 gene in a Tunisian family.
Tinsa F, Bel Hadj I, Riant F, Ben Romdhane M, Brini I, Tournier-Lasserve E, Louati H, Abdelhak S, Hamouda S, Boussetta K. Tinsa F, et al. Rev Neurol (Paris). 2019 Mar;175(3):194-197. doi: 10.1016/j.neurol.2018.04.013. Epub 2018 Oct 9. Rev Neurol (Paris). 2019. PMID: 30314744
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. PLoS One. 2021 Oct 6;16(10):e0258202. doi: 10.1371/journal.pone.0258202. eCollection 2021. PLoS One. 2021. PMID: 34614013 Free PMC article.
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.
Ben Haj Ali A, Amouri A, Sayeb M, Makni S, Hammami W, Naouali C, Dallali H, Romdhane L, Bashamboo A, McElreavey K, Abdelhak S, Messaoud O. Ben Haj Ali A, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00694. doi: 10.1002/mgg3.694. Epub 2019 May 23. Mol Genet Genomic Med. 2019. PMID: 31124294 Free PMC article.