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

Year Number of Results
2002 3
2004 2
2005 2
2006 3
2007 12
2008 6
2009 5
2010 7
2011 1
2012 3
2013 3
2014 2
2016 1
2019 3
2022 1
2023 1
2024 0

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52 results

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Page 1
MED12 related disorders.
Graham JM Jr, Schwartz CE. Graham JM Jr, et al. Am J Med Genet A. 2013 Nov;161A(11):2734-40. doi: 10.1002/ajmg.a.36183. Epub 2013 Oct 10. Am J Med Genet A. 2013. PMID: 24123922 Free PMC article. Review.
Seizures and X-linked intellectual disability.
Stevenson RE, Holden KR, Rogers RC, Schwartz CE. Stevenson RE, et al. Eur J Med Genet. 2012 May;55(5):307-12. doi: 10.1016/j.ejmg.2012.01.017. Epub 2012 Feb 8. Eur J Med Genet. 2012. PMID: 22377486 Free PMC article. Review.
19q13.32 microdeletion syndrome: three new cases.
Castillo A, Kramer N, Schwartz CE, Miles JH, DuPont BR, Rosenfeld JA, Graham JM Jr. Castillo A, et al. Eur J Med Genet. 2014 Nov-Dec;57(11-12):654-8. doi: 10.1016/j.ejmg.2014.08.009. Epub 2014 Sep 16. Eur J Med Genet. 2014. PMID: 25230004
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, Bacha JDA, Yamada H, Lauterbach MA, Guillon M, Kaneko K, Norris JW, Siriwardena K, Blasér S, Teillon J, Mendoza-Londono R, Russeau M, Hadoux J, Ito S, Corvol P, Matheus MG, Holden KR, Takei K, Emiliani V, Bennaceur-Griscelli A, Schwartz CE, Nguyen G, Groszer M. Hirose T, et al. J Clin Invest. 2019 Apr 15;129(5):2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15. J Clin Invest. 2019. PMID: 30985297 Free PMC article.
52 results