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Page 1
Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.
Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo A, McElreavey K, Boubaker MS, Yacoub Youssef H, Abdelhak S. Laroussi N, et al. Among authors: chargui m. Ann Dermatol. 2017 Apr;29(2):243-246. doi: 10.5021/ad.2017.29.2.243. Epub 2017 Mar 24. Ann Dermatol. 2017. PMID: 28392661 Free PMC article. No abstract available.
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.
Ben Rekaya M, Naouali C, Messaoud O, Jones M, Bouyacoub Y, Nagara M, Pippucci T, Jmel H, Chargui M, Jerbi M, Alibi M, Dallali H, Bashamboo A, McElreavey K, Romeo G, Barakat A, Zghal M, Yacoub-Youssef H, Abdelhak S. Ben Rekaya M, et al. Among authors: chargui m. J Dermatol Sci. 2018 Feb;89(2):172-180. doi: 10.1016/j.jdermsci.2017.10.015. Epub 2017 Nov 2. J Dermatol Sci. 2018. PMID: 29169765
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: chargui m. J Dermatol. 2018 Aug;45(8):978-985. doi: 10.1111/1346-8138.14359. Epub 2018 May 29. J Dermatol. 2018. PMID: 29808591
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: chargui m. 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.
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: chargui m. 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.
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: chargui m. 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.
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. Among authors: chargui m. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014. PLoS One. 2014. PMID: 24926664 Free PMC article.
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: chargui m. 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.
26 results