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Results by year

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

Year Number of Results
1895 1
1954 2
1957 1
1959 1
1965 1
1969 1
1970 2
1975 1
1976 2
1977 2
1980 5
1981 2
1982 3
1983 1
1984 4
1985 1
1987 2
1988 2
1989 3
1990 2
1991 1
1992 3
1993 2
1994 2
1995 5
1996 5
1997 1
1998 7
1999 5
2000 2
2001 3
2002 3
2003 3
2005 3
2006 5
2007 3
2008 6
2009 7
2010 11
2011 17
2012 13
2013 9
2014 10
2015 8
2016 5
2017 6
2018 3
2019 4
2020 2
2021 1
2022 2
2023 1
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180 results
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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Among authors: short pj. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Use of the oral beta blocker bisoprolol to reduce the rate of exacerbation in people with chronic obstructive pulmonary disease (COPD): a randomised controlled trial (BICS).
Cotton S, Devereux G, Abbas H, Briggs A, Campbell K, Chaudhuri R, Choudhury G, Dawson D, De Soyza A, Fielding S, Gompertz S, Haughney J, Lang CC, Lee AJ, MacLennan G, MacNee W, McCormack K, McMeekin N, Mills NL, Morice A, Norrie J, Petrie MC, Price D, Short P, Vestbo J, Walker P, Wedzicha J, Wilson A, Lipworth BJ. Cotton S, et al. Among authors: short p. Trials. 2022 Apr 14;23(1):307. doi: 10.1186/s13063-022-06226-8. Trials. 2022. PMID: 35422024 Free PMC article. Clinical Trial.
Quantifying the contribution of recessive coding variation to developmental disorders.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. Martin HC, et al. Among authors: short p. Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8. Science. 2018. PMID: 30409806 Free PMC article.
Working at arthritis.
Short P, Jones AC, Walker D, Kavanaugh A, Moots RJ. Short P, et al. Rheumatology (Oxford). 2012 Feb;51(2):201-3. doi: 10.1093/rheumatology/ker415. Epub 2011 Dec 16. Rheumatology (Oxford). 2012. PMID: 22179726 No abstract available.
Genetic and chemotherapeutic influences on germline hypermutation.
Kaplanis J, Ide B, Sanghvi R, Neville M, Danecek P, Coorens T, Prigmore E, Short P, Gallone G, McRae J; Genomics England Research Consortium; Carmichael J, Barnicoat A, Firth H, O'Brien P, Rahbari R, Hurles M. Kaplanis J, et al. Among authors: short p. Nature. 2022 May;605(7910):503-508. doi: 10.1038/s41586-022-04712-2. Epub 2022 May 11. Nature. 2022. PMID: 35545669 Free PMC article.
Tiotropium in asthma.
Lipworth B, Manoharan A, Short P. Lipworth B, et al. Among authors: short p. N Engl J Med. 2012 Dec 27;367(26):2552; author reply 2553. doi: 10.1056/NEJMc1213076. N Engl J Med. 2012. PMID: 23268673 No abstract available.
Contribution of retrotransposition to developmental disorders.
Gardner EJ, Prigmore E, Gallone G, Danecek P, Samocha KE, Handsaker J, Gerety SS, Ironfield H, Short PJ, Sifrim A, Singh T, Chandler KE, Clement E, Lachlan KL, Prescott K, Rosser E, FitzPatrick DR, Firth HV, Hurles ME. Gardner EJ, et al. Among authors: short pj. Nat Commun. 2019 Oct 11;10(1):4630. doi: 10.1038/s41467-019-12520-y. Nat Commun. 2019. PMID: 31604926 Free PMC article.
Debating survey approaches.
Cleary PD, Lubalin J, Hays RD, Short PF, Edgman-Levitan S, Sheridan S. Cleary PD, et al. Among authors: short pf. Health Aff (Millwood). 1998 Jan-Feb;17(1):265-8. doi: 10.1377/hlthaff.17.1.265. Health Aff (Millwood). 1998. PMID: 9455038 No abstract available.
180 results