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140 results

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Page 1
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, Abdelhak S. Nagara M, et al. Among authors: mrad r. Genet Test Mol Biomarkers. 2014 Nov;18(11):741-8. doi: 10.1089/gtmb.2014.0175. Epub 2014 Oct 6. Genet Test Mol Biomarkers. 2014. PMID: 25285676 Free PMC article. Clinical Trial.
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090
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: mrad r. Int J Dermatol. 2014 Dec;53(12):1478-80. doi: 10.1111/ijd.12569. Epub 2014 Sep 10. Int J Dermatol. 2014. PMID: 25209454
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: mrad r. 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: mrad r. 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: mrad r. 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.
140 results