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Results by year

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

Year Number of Results
1977 1
1978 1
1983 2
1986 2
1987 4
1988 2
1989 4
1990 1
1991 2
1992 3
1994 1
1995 2
1996 5
1997 3
1998 3
1999 3
2000 1
2001 2
2002 9
2003 10
2004 6
2005 11
2006 12
2007 11
2008 9
2009 12
2010 15
2011 5
2012 9
2013 8
2014 16
2015 9
2016 10
2017 15
2018 12
2019 11
2020 17
2021 10
2022 9
2023 1
2024 5

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Publication date

PubMed for id: 462225

245 results

Results by year

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Page 1
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F. Laberthonnière C, et al. Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523. Nucleic Acids Res. 2023. PMID: 37334829 Free PMC article.
A patient with mosaic USP9X gene variant.
Barili V, Dall'Asta A, Uliana V, Schera GBL, Ormitti F, Romanini E, Micalizzi A, Magliozzi M, Perrino D, Novelli A, Ghi T, Percesepe A. Barili V, et al. Eur J Med Genet. 2022 Dec;65(12):104638. doi: 10.1016/j.ejmg.2022.104638. Epub 2022 Oct 8. Eur J Med Genet. 2022. PMID: 36216272
245 results