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

Year Number of Results
1959 1
1960 1
1963 1
1968 1
1977 1
1978 2
1979 1
1980 1
1981 1
1982 2
1983 5
1984 3
1985 1
1986 3
1987 2
1988 2
1989 3
1990 4
1991 3
1992 1
1993 4
1994 1
1995 8
1996 9
1997 3
1998 3
1999 3
2000 12
2001 16
2002 7
2003 11
2004 11
2005 10
2006 10
2007 14
2008 13
2009 27
2010 18
2011 23
2012 23
2013 10
2014 11
2015 11
2016 11
2017 13
2018 12
2019 8
2020 4
2021 3
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Article attribute
Article type
Publication date

Search Results

313 results
Results by year
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Page 1
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Among authors: koopman p. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: koopman p. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A. Croft B, et al. Among authors: koopman p. Nat Commun. 2018 Dec 14;9(1):5319. doi: 10.1038/s41467-018-07784-9. Nat Commun. 2018. PMID: 30552336 Free PMC article.
Retinoid signaling determines germ cell fate in mice.
Bowles J, Knight D, Smith C, Wilhelm D, Richman J, Mamiya S, Yashiro K, Chawengsaksophak K, Wilson MJ, Rossant J, Hamada H, Koopman P. Bowles J, et al. Among authors: koopman p. Science. 2006 Apr 28;312(5773):596-600. doi: 10.1126/science.1125691. Epub 2006 Mar 30. Science. 2006. PMID: 16574820 Free article.
Sex Determination in the Mammalian Germline.
Spiller C, Koopman P, Bowles J. Spiller C, et al. Among authors: koopman p. Annu Rev Genet. 2017 Nov 27;51:265-285. doi: 10.1146/annurev-genet-120215-035449. Epub 2017 Aug 30. Annu Rev Genet. 2017. PMID: 28853925 Review.
Clinical characterization of the first Belgian SCN5A founder mutation cohort.
Sieliwonczyk E, Alaerts M, Robyns T, Schepers D, Claes C, Corveleyn A, Willems R, Van Craenenbroeck EM, Simons E, Nijak A, Vandendriessche B, Mortier G, Vrints C, Koopman P, Heidbuchel H, Van Laer L, Saenen J, Loeys B. Sieliwonczyk E, et al. Among authors: koopman p. Europace. 2020 Nov 22:euaa305. doi: 10.1093/europace/euaa305. Online ahead of print. Europace. 2020. PMID: 33221854
313 results
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