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

Year Number of Results
1982 2
1984 1
1985 2
1986 2
1987 5
1988 1
1989 1
1990 6
1991 3
1992 1
1993 2
1994 6
1995 7
1996 4
1997 11
1998 13
1999 6
2000 15
2001 14
2002 23
2003 29
2004 26
2005 65
2006 46
2007 40
2008 37
2009 44
2010 49
2011 81
2012 52
2013 90
2014 79
2015 71
2016 56
2017 49
2018 68
2019 45
2020 1
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916 results
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Page 1
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. Balasubramanian M, et al. J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. J Med Genet. 2017. PMID: 28100473 Free article. Review.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.
CLOVE Syndrome.
Kasinathan A, Sankhyan N, Ahuja CK, Singhi P. Kasinathan A, et al. Indian J Pediatr. 2018 Jan;85(1):79-80. doi: 10.1007/s12098-017-2416-z. Epub 2017 Jul 28. Indian J Pediatr. 2018. PMID: 28752282 No abstract available.
Corticostriatal connectivity and its role in disease.
Shepherd GM. Shepherd GM. Nat Rev Neurosci. 2013 Apr;14(4):278-91. doi: 10.1038/nrn3469. Nat Rev Neurosci. 2013. PMID: 23511908 Free PMC article. Review.
The genetics of microdeletion and microduplication syndromes: an update.
Watson CT, Marques-Bonet T, Sharp AJ, Mefford HC. Watson CT, et al. Annu Rev Genomics Hum Genet. 2014;15:215-244. doi: 10.1146/annurev-genom-091212-153408. Epub 2014 Apr 16. Annu Rev Genomics Hum Genet. 2014. PMID: 24773319 Free PMC article. Review.
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Wright CF, McRae JF, Clayton S, Gallone G, Aitken S, FitzGerald TW, Jones P, Prigmore E, Rajan D, Lord J, Sifrim A, Kelsell R, Parker MJ, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD Study. Wright CF, et al. Genet Med. 2018 Oct;20(10):1216-1223. doi: 10.1038/gim.2017.246. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323667 Free PMC article.
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