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

Year Number of Results
1991 2
1993 2
1994 3
1995 2
1996 2
1997 1
1998 4
1999 7
2000 6
2001 4
2002 3
2003 5
2004 4
2005 11
2006 6
2007 7
2008 3
2009 5
2010 4
2011 5
2012 16
2013 5
2022 0
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99 results
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Page 1
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB. Rivière JB, et al. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331. Nat Genet. 2012. PMID: 22729224 Free PMC article.
Clinical review of genetic epileptic encephalopathies.
Noh GJ, Jane Tavyev Asher Y, Graham JM Jr. Noh GJ, et al. Eur J Med Genet. 2012 May;55(5):281-98. doi: 10.1016/j.ejmg.2011.12.010. Epub 2012 Jan 25. Eur J Med Genet. 2012. PMID: 22342633 Free PMC article. Review.
MICRO syndrome: an entity distinct from COFS syndrome.
Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D. Graham JM Jr, et al. Am J Med Genet A. 2004 Jul 30;128A(3):235-45. doi: 10.1002/ajmg.a.30060. Am J Med Genet A. 2004. PMID: 15216543 Review.
99 results