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Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Felhi R, Charif M, Sfaihi L, Mkaouar-Rebai E, Desquiret-Dumas V, Kallel R, Bris C, Goudenège D, Guichet A, Bonneau D, Procaccio V, Reynier P, Amati-Bonneau P, Hachicha M, Fakhfakh F, Lenaers G. Felhi R, et al. Among authors: sfaihi l. Mol Biol Rep. 2020 May;47(5):3779-3787. doi: 10.1007/s11033-020-05425-3. Epub 2020 Apr 21. Mol Biol Rep. 2020. PMID: 32319008
Nephropathic infantile form of cystinosis about one case.
Sfaihi L, Aloulou H, Ben Amor S, Kamoun T, Hachicha M. Sfaihi L, et al. Fetal Pediatr Pathol. 2013 Feb;31(1):66-70. doi: 10.3109/15513815.2012.671445. Epub 2012 Apr 12. Fetal Pediatr Pathol. 2013. PMID: 22497686
[Sickle cell disease revealed by venous thrombosis].
Sfaihi L, Fourati H, Kamoun F, Hakim A, Ben Mahfoudh F, Kamoun T, Mnif Z, Hachicha M. Sfaihi L, et al. Arch Pediatr. 2012 Nov;19(11):1243-6. doi: 10.1016/j.arcped.2012.08.027. Epub 2012 Oct 6. Arch Pediatr. 2012. PMID: 23044034 French. No abstract available.
[Hereditary hemorrhagic telangiectasia. Report of a pediatric case].
Maaloul I, Aloulou H, Fourati H, Sfaihi L, Chabchoub I, Kamoun T, Mnif Z, Hachicha M. Maaloul I, et al. Among authors: sfaihi l. Arch Pediatr. 2014 Jul;21(7):768-71. doi: 10.1016/j.arcped.2014.04.021. Epub 2014 Jun 13. Arch Pediatr. 2014. PMID: 24935454 French.
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.
Ammar M, Tabebi M, Sfaihi L, Alila-Fersi O, Maalej M, Felhi R, Chabchoub I, Keskes L, Hachicha M, Fakhfakh F, Mkaouar-Rebai E. Ammar M, et al. Among authors: sfaihi l. Biochem Biophys Res Commun. 2016 Jun 10;474(4):702-708. doi: 10.1016/j.bbrc.2016.05.014. Epub 2016 May 4. Biochem Biophys Res Commun. 2016. PMID: 27155156
41 results