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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
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1992 1
1993 2
1994 1
1996 3
1997 1
1998 2
1999 1
2003 2
2004 2
2006 2
2007 3
2008 4
2009 6
2010 15
2011 23
2012 27
2013 23
2014 11
2015 7
2016 11
2017 12
2018 12
2019 7
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177 results

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Page 1
ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
Cameron JM, Ellis CA, Berkovic SF; ILAE Genetics Commission; ILAE Genetic Literacy Task Force. Cameron JM, et al. Epileptic Disord. 2023 Oct;25(5):670-680. doi: 10.1002/epd2.20152. Epub 2023 Sep 6. Epileptic Disord. 2023. PMID: 37616028 Free PMC article. Review.
ILAE genetic literacy series: Focal cortical dysplasia.
Macdonald-Laurs E, Leventer RJ; ILAE Genetics Commission* and the ILAE Genetics Literacy Taskforce**. Macdonald-Laurs E, et al. Epileptic Disord. 2024 Dec 6. doi: 10.1002/epd2.20308. Online ahead of print. Epileptic Disord. 2024. PMID: 39641771 Review.
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.
Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A. Marrakchi S, et al. Among authors: fakhfakh f. N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. N Engl J Med. 2011. PMID: 21848462 Free article.
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
Kharrat M, Issa AB, Tlili A, Jallouli O, Alila-Fersi O, Maalej M, Chouchen J, Ghouylia Y, Kamoun F, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: fakhfakh f. J Mol Neurosci. 2023 Oct;73(9-10):853-864. doi: 10.1007/s12031-023-02163-6. Epub 2023 Oct 10. J Mol Neurosci. 2023. PMID: 37817054
First report of Tunisian patients with CDKL5-related encephalopathy.
Charfi Triki C, Zouari Mallouli S, Ben Jdila M, Ben Said M, Kamoun Feki F, Weckhuysen S, Masmoudi S, Fakhfakh F. Charfi Triki C, et al. Among authors: fakhfakh f. Epilepsia Open. 2024 Jun;9(3):906-917. doi: 10.1002/epi4.12824. Epub 2024 Apr 29. Epilepsia Open. 2024. PMID: 37701975 Free PMC article.
Factor XIII deficiency in south of Tunisia.
Maaloul I, Medhaffer M, Louhichi N, Krichen I, Alibi S, Kmiha S, Aloulou H, Fakhfakh F, Elloumi M, Kallel C, Hachicha M. Maaloul I, et al. Among authors: fakhfakh f. Blood Coagul Fibrinolysis. 2017 Sep;28(6):485-489. doi: 10.1097/MBC.0000000000000649. Blood Coagul Fibrinolysis. 2017. PMID: 28704210
Genome Tunisia Project: paving the way for precision medicine in North Africa.
Hamdi Y, Trabelsi M, Ghedira K, Boujemaa M, Ben Ayed I, Charfeddine C, Souissi A, Rejeb I, Kammoun Rebai W, Hkimi C, Neifar F, Jandoubi N, Mkaouar R, Chaouch M, Bennour A, Kamoun S, Chaker Masmoudi H, Abid N, Mezghani Khemakhem M; GTCA Consortium; Masmoudi S, Saad A, BenJemaa L, BenKahla A, Boubaker S, Mrad R, Kamoun H, Abdelhak S, Gribaa M, Belguith N, Kharrat N, Hmida D, Rebai A. Hamdi Y, et al. Genome Med. 2024 Aug 27;16(1):104. doi: 10.1186/s13073-024-01365-w. Genome Med. 2024. PMID: 39187811 Free PMC article.
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Maalej M, Sfaihi L, Fersi OA, Khabou B, Ammar M, Felhi R, Kharrat M, Chouchen J, Kammoun T, Tlili A, Fakhfakh F. Maalej M, et al. Among authors: fakhfakh f. Metab Brain Dis. 2024 Apr;39(4):611-623. doi: 10.1007/s11011-024-01343-6. Epub 2024 Feb 16. Metab Brain Dis. 2024. PMID: 38363494
177 results