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Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O. Dorboz I, et al. Among authors: jmel h. Neurol Genet. 2018 Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584594 Free PMC article.
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: jmel h. 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
On the origin of Iberomaurusians: new data based on ancient mitochondrial DNA and phylogenetic analysis of Afalou and Taforalt populations.
Kefi R, Hechmi M, Naouali C, Jmel H, Hsouna S, Bouzaid E, Abdelhak S, Beraud-Colomb E, Stevanovitch A. Kefi R, et al. Among authors: jmel h. Mitochondrial DNA A DNA Mapp Seq Anal. 2018 Jan;29(1):147-157. doi: 10.1080/24701394.2016.1258406. Epub 2016 Dec 30. Mitochondrial DNA A DNA Mapp Seq Anal. 2018. PMID: 28034339
Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population.
Kefi R, Hechmi M, Dallali H, Elouej S, Jmel H, Halima YB, Nagara M, Chargui M, Fadhel SB, Romdhane S, Kamoun I, Turki Z, Abid A, Bahri S, Bahlous A, Gomis R, Baraket A, Grigorescu F, Normand C, Jamoussi H, Abdelhak S. Kefi R, et al. Among authors: jmel h. Ann Endocrinol (Paris). 2017 Jul;78(3):146-155. doi: 10.1016/j.ando.2017.01.005. Epub 2017 Jun 16. Ann Endocrinol (Paris). 2017. PMID: 28624160
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
Dallali H, Pezzilli S, Hechmi M, Sallem OK, Elouej S, Jmel H, Ben Halima Y, Chargui M, Gharbi M, Mercuri L, Alberico F, Mazza T, Bahlous A, Ben Ahmed M, Jamoussi H, Abid A, Trischitta V, Abdelhak S, Prudente S, Kefi R. Dallali H, et al. Among authors: jmel h. Acta Diabetol. 2019 May;56(5):515-523. doi: 10.1007/s00592-018-01283-5. Epub 2019 Jan 17. Acta Diabetol. 2019. PMID: 30656436
Gut microbiota imbalances in Tunisian participants with type 1 and type 2 diabetes mellitus.
Fassatoui M, Lopez-Siles M, Díaz-Rizzolo DA, Jmel H, Naouali C, Abdessalem G, Chikhaoui A, Nadal B, Jamoussi H, Abid A, Gomis R, Abdelhak S, Martinez-Medina M, Kefi R. Fassatoui M, et al. Among authors: jmel h. Biosci Rep. 2019 Jun 18;39(6):BSR20182348. doi: 10.1042/BSR20182348. Print 2019 Jun 28. Biosci Rep. 2019. PMID: 31147456 Free PMC article.
21 results