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Results by year

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

Year Number of Results
1971 1
1975 1
1977 2
1978 1
1980 1
1982 2
1984 2
1985 4
1986 2
1987 2
1988 1
1989 2
1992 3
1993 12
1994 6
1995 7
1996 2
1997 4
1998 3
1999 3
2000 3
2001 2
2002 1
2003 6
2004 23
2005 21
2006 24
2007 23
2008 22
2009 19
2010 26
2011 18
2012 17
2013 33
2014 22
2015 31
2016 24
2017 31
2018 26
2019 21
2020 31
2021 26
2022 31
2023 26
2024 8

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PubMed for id: 98433

500 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.
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Aldhalaan H, AlBakheet A, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, Cardona-Londoño KJ, Alahmadi KO, AlQudairy H, AlRasheed MM, Colak D, Arold ST, Kaya N. Aldhalaan H, et al. Genes (Basel). 2021 Dec 30;13(1):92. doi: 10.3390/genes13010092. Genes (Basel). 2021. PMID: 35052432 Free PMC article.
500 results