Abdelhak S - Search Results

1

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S. Jaouadi H, et al. Among authors: abdelhak s. J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25. J Hum Genet. 2018. PMID: 30046096 Free article. Clinical Trial.

2

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Bouchlaka C, Abdelhak S, Amouri A, Ben Abid H, Hadiji S, Frikha M, Ben Othman T, Amri F, Ayadi H, Hachicha M, Rebaï A, Saad A, Dellagi K; Tunisian Fanconi Anemia Study Group. Bouchlaka C, et al. Among authors: abdelhak s. J Hum Genet. 2003;48(7):352-61. doi: 10.1007/s10038-003-0037-z. Epub 2003 Jun 24. J Hum Genet. 2003. PMID: 12827451

3

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

4

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.

Charfeddine C, Mokni M, Kassar S, Zribi H, Bouchlaka C, Boubaker S, Rebai A, Ben Osman A, Abdelhak S. Charfeddine C, et al. Among authors: abdelhak s. J Hum Genet. 2006;51(10):841-845. doi: 10.1007/s10038-006-0002-8. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865292

5

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F, Tebib N, Abdelmoula MS, Boukthir S, Fitouri Z, M'Rad S, Bouslama K, Touiri H, Abdelhak S, Dellagi MK. El Kares R, et al. Among authors: abdelhak s. J Hum Genet. 2006;51(10):887-895. doi: 10.1007/s10038-006-0039-8. Epub 2006 Aug 26. J Hum Genet. 2006. PMID: 16937026

6

Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.

Bouchlaka C, Maktouf C, Mahjoub B, Ayadi A, Sfar MT, Sioud M, Gueddich N, Belhadjali Z, Rebaï A, Abdelhak S, Dellagi K. Bouchlaka C, et al. Among authors: abdelhak s. J Hum Genet. 2007;52(3):262-270. doi: 10.1007/s10038-007-0110-0. Epub 2007 Feb 7. J Hum Genet. 2007. PMID: 17285242

7

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M. Ben Rekaya M, et al. Among authors: abdelhak s. J Hum Genet. 2009 Jul;54(7):426-9. doi: 10.1038/jhg.2009.50. Epub 2009 May 29. J Hum Genet. 2009. PMID: 19478817

8

Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.

Ouechtati F, Belhadj Tahar O, Mhenni A, Chakroun S, Chouchene I, Oueslati S, Rebai A, Abdelhak S, Jeddi-Blouza A. Ouechtati F, et al. Among authors: abdelhak s. J Hum Genet. 2009 Oct;54(10):589-94. doi: 10.1038/jhg.2009.82. Epub 2009 Aug 21. J Hum Genet. 2009. PMID: 19696794

9

Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.

Ben Yahia S, Ouechtati F, Jelliti B, Nouira S, Chakroun S, Abdelhak S, Khairallah M. Ben Yahia S, et al. Among authors: abdelhak s. J Hum Genet. 2009 Sep;54(9):550-3. doi: 10.1038/jhg.2009.75. Epub 2009 Aug 21. J Hum Genet. 2009. PMID: 19696795

10

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L. Ouechtati F, et al. Among authors: abdelhak s. J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107338

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