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Year Number of Results
2004 1
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2010 1
2012 6
2013 7
2014 7
2015 3
2016 5
2017 3
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2020 1
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41 results

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Page 1
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Maalej M, Sfaihi L, Ammar M, Frikha F, Kharrat M, Alila-Fersi O, Mkaouar-Rebai E, Tlili A, Kammoun T, Fakhfakh F. Maalej M, et al. Among authors: sfaihi l. Neurogenetics. 2022 Oct;23(4):257-270. doi: 10.1007/s10048-022-00696-3. Epub 2022 Jul 11. Neurogenetics. 2022. PMID: 35819538
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Aguech A, Sfaihi L, Alila-Fersi O, Kolsi R, Tlili A, Kammoun T, Fendri A, Fakhfakh F. Aguech A, et al. Among authors: sfaihi l. Metab Brain Dis. 2023 Dec;38(8):2665-2678. doi: 10.1007/s11011-023-01276-6. Epub 2023 Sep 1. Metab Brain Dis. 2023. PMID: 37656370
[Granulomatous lymphadenitis revealing a deficiency in receptor IL12].
Kamoun F, Sfaihi L, Ben Mustapha I, Ben Ameur S, Barbouche MR, Hachicha M. Kamoun F, et al. Among authors: sfaihi l. Presse Med. 2017 Mar;46(3):346-348. doi: 10.1016/j.lpm.2016.11.017. Epub 2016 Dec 26. Presse Med. 2017. PMID: 28034490 French. No abstract available.
Chylomicron retention disease: A rare cause of chronic diarrhea.
Ben Ameur S, Aloulou H, Jlidi N, Kamoun F, Chabchoub I, Di Filippo M, Sfaihi L, Hachicha M. Ben Ameur S, et al. Among authors: sfaihi l. Arch Pediatr. 2016 Jul;23(7):735-7. doi: 10.1016/j.arcped.2016.04.010. Epub 2016 Jun 3. Arch Pediatr. 2016. PMID: 27266643
41 results