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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. Among authors: abdelhak s. 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.
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O, Rekaya MB, Ouragini H, Benfadhel S, Azaiez H, Kefi R, Gouider-Khouja N, Mokhtar I, Amouri A, Boubaker MS, Zghal M, Abdelhak S. Messaoud O, et al. Among authors: abdelhak s. Arch Dermatol Res. 2012 Mar;304(2):171-6. doi: 10.1007/s00403-011-1190-4. Epub 2011 Nov 12. Arch Dermatol Res. 2012. PMID: 22081045
Adult Gaucher disease in southern Tunisia: report of three cases.
Ben Rhouma F, Kallel F, Kefi R, Cherif W, Nagara M, Azaiez H, Jedidi I, Elloumi M, Abdelhak S, Mseddi S. Ben Rhouma F, et al. Among authors: abdelhak s. Diagn Pathol. 2012 Jan 10;7:4. doi: 10.1186/1746-1596-7-4. Diagn Pathol. 2012. PMID: 22233685 Free PMC article.
Screening of three Mediterranean phenylketonuria mutations in Tunisian families.
Khemir S, Siala H, Taieb SH, Cherif W, Azzouz H, Kéfi R, Abdelhak S, Khouja N, Tebib N, Massaoud T, Ben Dridi MF, Kaabachi N. Khemir S, et al. Among authors: abdelhak s. J Genet. 2012;91(1):91-4. doi: 10.1007/s12041-012-0140-z. J Genet. 2012. PMID: 22546830 Free article. No abstract available.
Biotinidase deficiency: novel mutations in Algerian patients.
Tiar A, Mekki A, Nagara M, Rhouma FB, Messaoud O, Halim NB, Kefi R, Hamlaoui MT, Lebied A, Abdelhak S. Tiar A, et al. Among authors: abdelhak s. Gene. 2014 Feb 15;536(1):193-6. doi: 10.1016/j.gene.2013.02.011. Epub 2013 Feb 26. Gene. 2014. PMID: 23481307
The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.
Messaoud O, Ben Rekaya M, Jerbi M, Ouertani I, Kefi R, Laroussi N, Bouyacoub Y, Benfadhel S, Yacoub-Youssef H, Boubaker S, Zghal M, Mrad R, Amouri A, Abdelhak S. Messaoud O, et al. Among authors: abdelhak s. Public Health Genomics. 2013;16(5):251-4. doi: 10.1159/000354584. Epub 2013 Sep 7. Public Health Genomics. 2013. PMID: 24021614
Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.
Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H. Ben Brick AS, et al. Among authors: abdelhak s. Arch Dermatol Res. 2014 May;306(4):405-11. doi: 10.1007/s00403-013-1421-y. Epub 2013 Oct 30. Arch Dermatol Res. 2014. PMID: 24170138
245 results