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Page 1
Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.
Kraoua I, Jamoussi M, Drissi C, Kraoua L, Drunat S, Benrhouma H, Ben Younes T, Nagi S, Abdelhak S, Boespflug Tanguy O, Youssef-Turki IB, Trabelsi M, Dorboz I. Kraoua I, et al. Among authors: abdelhak s. Mol Genet Genomic Med. 2024 Oct;12(10):e70007. doi: 10.1002/mgg3.70007. Mol Genet Genomic Med. 2024. PMID: 39436788 Free PMC article.
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I. Kraoua I, et al. Among authors: abdelhak s. Neuropediatrics. 2021 Aug;52(4):302-309. doi: 10.1055/s-0041-1728654. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192786 Review.
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.
Lahbib S, Leblond CS, Hamza M, Regnault B, Lemée L, Mathieu A, Jaouadi H, Mkaouar R, Youssef-Turki IB, Belhadj A, Kraoua I, Bourgeron T, Abdelhak S. Lahbib S, et al. Among authors: abdelhak s. J Appl Genet. 2019 Feb;60(1):49-56. doi: 10.1007/s13353-018-0472-3. Epub 2018 Oct 4. J Appl Genet. 2019. PMID: 30284680
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.
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi M, Charif M, Kraoua I, Fassatoui M, Dallali H, Desquiret-Dumas V, Bris C, Goudenège D, Drissi C, Galaï S, Ouerhani S, Procaccio V, Amati-Bonneau P, Abdelhak S, Ben Youssef-Turki I, Lenaers G, Kefi R. Hechmi M, et al. Among authors: abdelhak s. Biosci Rep. 2022 Sep 30;42(9):BSR20220194. doi: 10.1042/BSR20220194. Biosci Rep. 2022. PMID: 36093993 Free PMC article.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R, Riahi Z, Marrakchi J, Mezzi N, Romdhane L, Boujemaa M, Dallali H, Sayeb M, Lahbib S, Jaouadi H, Boudabbous H, Zekri L, Chargui M, Messaoud O, Elyounsi M, Kraoua I, Zaouak A, Turki I, Mokni M, Boucher S, Petit C, Giraudet F, Mbarek C, Besbes G, Halayem S, Zainine R, Turki H, Tounsi A, Bonnet C, Mrad R, Abdelhak S, Trabelsi M, Charfeddine C. Mkaouar R, et al. Among authors: abdelhak s. Front Genet. 2024 Apr 22;15:1384094. doi: 10.3389/fgene.2024.1384094. eCollection 2024. Front Genet. 2024. PMID: 38711914 Free PMC article.
249 results