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Results by year

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

Year Number of Results
1968 1
1971 2
1972 1
1975 8
1976 6
1977 10
1978 8
1979 10
1980 15
1981 12
1982 13
1983 8
1984 16
1985 23
1986 20
1987 17
1988 25
1989 21
1990 14
1991 18
1992 25
1993 20
1994 33
1995 31
1996 30
1997 27
1998 24
1999 32
2000 40
2001 22
2002 27
2003 40
2004 37
2005 42
2006 37
2007 41
2008 51
2009 50
2010 52
2011 62
2012 63
2013 61
2014 51
2015 59
2016 70
2017 64
2018 75
2019 62
2020 81
2021 78
2022 82
2023 51
2024 2

Text availability

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PubMed for id: 19617

1,595 results

Results by year

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Page 1
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT. Corriveau ML, et al. Am J Med Genet A. 2023 Jun;191(6):1619-1625. doi: 10.1002/ajmg.a.63177. Epub 2023 Mar 10. Am J Med Genet A. 2023. PMID: 36905087 Review.
1,595 results