Kefi R - Search Results

1

Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease.

Landoulsi Z, Ben Djebara M, Kacem I, Sidhom Y, Kefi R, Abdelhak S, Gargouri-Berrechid A, Gouider R. Landoulsi Z, et al. Among authors: kefi r. Med Princ Pract. 2018;27(4):317-322. doi: 10.1159/000489779. Epub 2018 May 3. Med Princ Pract. 2018. PMID: 29723869 Free PMC article.

2

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

3

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.

4

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.

5

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.

6

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.

7

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

8

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

9

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

10

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

Riahi Z, Zainine R, Mellouli Y, Hannachi R, Bouyacoub Y, Laroussi N, Beltaief N, Kefi R, Romdhane L, Bonnet C, Abdelhak S, Besbes G. Riahi Z, et al. Among authors: kefi r. Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1481-4. doi: 10.1016/j.ijporl.2013.06.013. Epub 2013 Jul 12. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23856378 Review.

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