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

Year Number of Results
2002 3
2004 4
2005 1
2006 3
2009 1
2011 1
2012 2
2013 3
2014 4
2015 3
2016 4
2017 4
2018 4
2019 4
2020 2
2021 10
2022 3
2023 1
2024 0

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52 results

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Page 1
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR. Carapancea E, et al. Among authors: benoit v. Neurology. 2023 Mar 21;100(12):e1234-e1247. doi: 10.1212/WNL.0000000000206755. Epub 2023 Jan 4. Neurology. 2023. PMID: 36599696 Free PMC article.
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Lhuissier C, Wagner BE, Vincent A, Garraux G, Hougrand O, Van Coster R, Benoit V, Karadurmus D, Lenaers G, Gueguen N, Chevrollier A, Maystadt I. Lhuissier C, et al. Among authors: benoit v. Front Neurol. 2022 Sep 23;13:937885. doi: 10.3389/fneur.2022.937885. eCollection 2022. Front Neurol. 2022. PMID: 36212643 Free PMC article.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Christensen MB, Levy AM, Mohammadi NA, Niceta M, Kaiyrzhanov R, Dentici ML, Al Alam C, Alesi V, Benoit V, Bhatia KP, Bierhals T, Boßelmann CM, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Geßner M, Gobert C, Guliyeva U, Haack TB, Hammer TB, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi MY, Moudi M, Müller AJ, Oostra AJ, Pletcher BA, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki MS, Zech M, Lerche H, Radio FC, Gomez-Puertas P, Møller RS, Tümer Z. Christensen MB, et al. Among authors: benoit v. Clin Genet. 2022 Aug;102(2):98-109. doi: 10.1111/cge.14165. Epub 2022 Jun 8. Clin Genet. 2022. PMID: 35616059 Free PMC article.
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
Lantoine J, Brysse A, Dideberg V, Claes K, Symoens S, Coucke W, Benoit V, Rombout S, De Rycke M, Seneca S, Van Laer L, Wuyts W, Corveleyn A, Van Den Bogaert K, Rydlewski C, Wilkin F, Ravoet M, Fastré E, Capron A, Vandevelde NM. Lantoine J, et al. Among authors: benoit v. JMIR Med Inform. 2021 Jul 12;9(7):e27980. doi: 10.2196/27980. JMIR Med Inform. 2021. PMID: 34255700 Free PMC article.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Zanoni P, et al. Among authors: benoit v. Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3. Genet Med. 2021. PMID: 33941880 Free PMC article.
52 results