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249 results

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Page 1
TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?
Daghsni M, Lahbib S, Fradj M, Sayeb M, Kelmemi W, Kraoua L, Kchaou M, Maazoul F, Echebbi S, Ben Ali N, Abdelhak S, M'rad R. Daghsni M, et al. Among authors: abdelhak s. Cytogenet Genome Res. 2018;154(1):1-5. doi: 10.1159/000486945. Epub 2018 Feb 28. Cytogenet Genome Res. 2018. PMID: 29490292
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
Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.
Benmously-Mlika R, Zaouak A, Mrad R, Laaroussi N, Abdelhak S, Hovnanian A, Mokhtar I. Benmously-Mlika R, et al. Among authors: abdelhak s. Int J Dermatol. 2014 Dec;53(12):1478-80. doi: 10.1111/ijd.12569. Epub 2014 Sep 10. Int J Dermatol. 2014. PMID: 25209454
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. Among authors: abdelhak s. PLoS One. 2015 Mar 23;10(3):e0120584. doi: 10.1371/journal.pone.0120584. eCollection 2015. PLoS One. 2015. PMID: 25798947 Free PMC article.
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia.
Jerbi M, Ben Rekaya M, Naouali C, Jones M, Messaoud O, Tounsi H, Nagara M, Chargui M, Kefi R, Boussen H, Mokni M, Mrad R, Boubaker MS, Abdelhak S, Khaled A, Zghal M, Yacoub-Youssef H. Jerbi M, et al. Among authors: abdelhak s. Br J Dermatol. 2016 Feb;174(2):439-43. doi: 10.1111/bjd.14046. Epub 2015 Nov 26. Br J Dermatol. 2016. PMID: 26211814 No abstract available.
H syndrome: Clinical, histological and genetic investigation in Tunisian patients.
Jaouadi H, Zaouak A, Sellami K, Messaoud O, Chargui M, Hammami H, Jones M, Jouini R, Chadli Debbiche A, Chraiet K, Fenniche S, Mrad R, Mokni M, Turki H, Benkhalifa R, Abdelhak S. Jaouadi H, et al. Among authors: abdelhak s. J Dermatol. 2018 Aug;45(8):978-985. doi: 10.1111/1346-8138.14359. Epub 2018 May 29. J Dermatol. 2018. PMID: 29808591
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.
Hamdi Y, Boujemaa M, Ben Rekaya M, Ben Hamda C, Mighri N, El Benna H, Mejri N, Labidi S, Daoud N, Naouali C, Messaoud O, Chargui M, Ghedira K, Boubaker MS, Mrad R, Boussen H, Abdelhak S; PEC Consortium. Hamdi Y, et al. Among authors: abdelhak s. J Transl Med. 2018 Jun 7;16(1):158. doi: 10.1186/s12967-018-1504-9. J Transl Med. 2018. PMID: 29879995 Free PMC article.
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.
Ben Chehida A, Ben Messaoud S, Ben Abdelaziz R, Mansouri H, Boudabous H, Hakim K, Ben Ali N, Ben Ameur Z, Sassi Y, Kaabachi N, Abdelhak S, Abdelmoula MS, Azzouz H, Tebib N. Ben Chehida A, et al. Among authors: abdelhak s. J Pediatr Endocrinol Metab. 2018 Sep 25;31(9):979-986. doi: 10.1515/jpem-2018-0151. J Pediatr Endocrinol Metab. 2018. PMID: 30110253
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
249 results