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

Year Number of Results
1976 1
1984 1
1989 1
1990 32
1991 148
1992 245
1993 213
1994 317
1995 269
1996 364
1997 437
1998 449
1999 439
2000 573
2001 475
2002 219
2003 200
2004 181
2005 139
2006 88
2007 91
2008 85
2009 86
2010 109
2011 101
2012 64
2013 59
2014 68
2015 60
2016 54
2017 33
2018 36
2019 20
2020 1
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5,533 results
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Page 1
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Monies D, Maddirevula S, Kurdi W, Alanazy MH, Alkhalidi H, Al-Owain M, Sulaiman RA, Faqeih E, Goljan E, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Shaheen R, Arold ST, Alkuraya FS. Monies D, et al. Genet Med. 2017 Oct;19(10):1144-1150. doi: 10.1038/gim.2017.22. Epub 2017 Apr 6. Genet Med. 2017. PMID: 28383543
Recessive gene disruptions in autism spectrum disorder.
Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S; Autism Sequencing Consortium, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Doan RN, et al. Nat Genet. 2019 Jul;51(7):1092-1098. doi: 10.1038/s41588-019-0433-8. Epub 2019 Jun 17. Nat Genet. 2019. PMID: 31209396 Free PMC article.
The first 30 years of p53: growing ever more complex.
Levine AJ, Oren M. Levine AJ, et al. Nat Rev Cancer. 2009 Oct;9(10):749-58. doi: 10.1038/nrc2723. Nat Rev Cancer. 2009. PMID: 19776744 Free PMC article. Review.
Somatic TP53 variants frequently confound germ-line testing results.
Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K. Weitzel JN, et al. Genet Med. 2018 Aug;20(8):809-816. doi: 10.1038/gim.2017.196. Epub 2017 Nov 30. Genet Med. 2018. PMID: 29189820 Free PMC article.
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, Ali MH, Assir MZ, Rahman FU, Qazi ZA, Riazuddin S, Akram J, Riazuddin SA, Hejtmancik JF. Chen J, et al. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2207-2217. doi: 10.1167/iovs.17-21469. Invest Ophthalmol Vis Sci. 2017. PMID: 28418495 Free PMC article.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC. Romano MT, et al. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401459 Free PMC article.
A Conversation with Karen Vousden.
Cold Spring Harb Symp Quant Biol. 2016;81:351-353. doi: 10.1101/sqb.2016.81.031930. Epub 2017 Mar 9. Cold Spring Harb Symp Quant Biol. 2016. PMID: 28280228 No abstract available.
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