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

Year Number of Results
1991 2
1992 2
1993 2
1995 2
1999 1
2000 1
2001 2
2003 1
2004 1
2006 2
2007 1
2008 2
2009 5
2010 3
2011 2
2012 2
2013 2
2014 2
2015 1
2016 1
2017 4
2018 4
2019 5
2020 2
2021 4
2022 5
2023 3
2024 1
2025 0

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56 results

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Page 1
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. Uggenti C, et al. Among authors: peudenier s. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Nat Genet. 2020. PMID: 33230297 Free article.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K. Couloigner L, et al. Among authors: peudenier s. Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1. Clin Genet. 2023. PMID: 36444497 Review. No abstract available.
A Hemimotor Deficit in an 18-Month-Old Boy Revealing Acute Myelitis.
Gelebart C, Sacaze E, Peudenier S, Legeas O, Ropars J. Gelebart C, et al. Among authors: peudenier s. Neuropediatrics. 2019 Oct;50(5):332-333. doi: 10.1055/s-0039-1684051. Epub 2019 Apr 22. Neuropediatrics. 2019. PMID: 31009954 No abstract available.
56 results