Kefi R - Search Results

1

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H. Ben Rekaya M, et al. Among authors: kefi r. Biomed Res Int. 2014;2014:256245. doi: 10.1155/2014/256245. Epub 2014 May 4. Biomed Res Int. 2014. PMID: 24877075 Free PMC article. Clinical Trial.

2

The African Human Microbiome Portal: a public web portal of curated metagenomic metadata.

Kiran A, Hanachi M, Alsayed N, Fassatoui M, Oduaran OH, Allali I, Maslamoney S, Meintjes A, Zass L, Rocha JD, Kefi R, Benkahla A, Ghedira K, Panji S, Mulder N, Fadlelmola FM, Souiai O. Kiran A, et al. Among authors: kefi r. Database (Oxford). 2024 Jan 10;2024:baad092. doi: 10.1093/database/baad092. Database (Oxford). 2024. PMID: 38204360 Free PMC article.

3

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).

Dorboz I, Eymard-Pierre E, Kefi R, Abdelhak S, Miladi N, Boespflug-Tanguy O; Tunisian Leukodystrophy Study Group. Dorboz I, et al. Among authors: kefi r. J Neurol Sci. 2009 Dec 15;287(1-2):278-80. doi: 10.1016/j.jns.2009.07.023. Epub 2009 Aug 21. J Neurol Sci. 2009. PMID: 19699491

4

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: kefi r. Diagn Pathol. 2012 Jan 10;7:4. doi: 10.1186/1746-1596-7-4. Diagn Pathol. 2012. PMID: 22233685 Free PMC article.

5

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: kefi r. J Genet. 2012;91(1):91-4. doi: 10.1007/s12041-012-0140-z. J Genet. 2012. PMID: 22546830 No abstract available.

6

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L, Kefi R, Azaiez H, Ben Halim N, Dellagi K, Abdelhak S. Romdhane L, et al. Among authors: kefi r. Orphanet J Rare Dis. 2012 Aug 21;7:52. doi: 10.1186/1750-1172-7-52. Orphanet J Rare Dis. 2012. PMID: 22908982 Free PMC article.

7

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.

Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, Ayadi A, Boughamoura L, Chemli J, Saad A, Kaabachi N, Sfar MT, Ben Dridi MF, Tebib N, Abdelhak S. Cherif W, et al. Among authors: kefi r. Ann Biol Clin (Paris). 2012 Nov-Dec;70(6):648-50. doi: 10.1684/abc.2012.0766. Ann Biol Clin (Paris). 2012. PMID: 23207808 Free article.

8

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S. Ben Rhouma F, et al. Among authors: kefi r. Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8. Mol Biol Rep. 2013. PMID: 23649758

9

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Riahi Z, Hammami H, Ouragini H, Messai H, Zainine R, Bouyacoub Y, Romdhane L, Essaid D, Kefi R, Rhimi M, Bedoui M, Dhaouadi A, Feldmann D, Jonard L, Besbes G, Abdelhak S. Riahi Z, et al. Among authors: kefi r. Gene. 2013 Aug 1;525(1):1-4. doi: 10.1016/j.gene.2013.04.078. Epub 2013 May 13. Gene. 2013. PMID: 23680645

10

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.

Nagara M, Tiar A, Ben Halim N, Ben Rhouma F, Messaoud O, Bouyacoub Y, Kefi R, Hassayoun S, Zouari N, Ben Ammar MS, Abdelhak S, Chemli J. Nagara M, et al. Among authors: kefi r. Gene. 2013 Sep 15;527(1):316-20. doi: 10.1016/j.gene.2013.06.023. Epub 2013 Jun 25. Gene. 2013. PMID: 23810941

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