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Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.
Megy K, Downes K, Simeoni I, Bury L, Morales J, Mapeta R, Bellissimo DB, Bray PF, Goodeve AC, Gresele P, Lambert M, Reitsma P, Ouwehand WH, Freson K; Subcommittee on Genomics in Thrombosis and Hemostasis. Megy K, et al. Among authors: ouwehand wh. J Thromb Haemost. 2019 Aug;17(8):1253-1260. doi: 10.1111/jth.14479. Epub 2019 Jun 9. J Thromb Haemost. 2019. PMID: 31179617 Free PMC article. No abstract available.
Platelet genomics and the risk of atherothrombosis.
Ouwehand WH; Bloodomics and Wellcome Trust Case Control Consortia. Ouwehand WH, et al. J Thromb Haemost. 2007 Jul;5 Suppl 1:188-95. doi: 10.1111/j.1538-7836.2007.02550.x. J Thromb Haemost. 2007. PMID: 17635726 Free article. Review.
Mapping the platelet profile for functional genomic studies and demonstration of the effect size of the GP6 locus.
Jones CI, Garner SF, Angenent W, Bernard A, Berzuini C, Burns P, Farndale RW, Hogwood J, Rankin A, Stephens JC, Tom BD, Walton J, Dudbridge F, Ouwehand WH, Goodall AH; Bloodomics Consortium. Jones CI, et al. Among authors: ouwehand wh. J Thromb Haemost. 2007 Aug;5(8):1756-65. doi: 10.1111/j.1538-7836.2007.02632.x. J Thromb Haemost. 2007. PMID: 17663743 Free article.
The discovery of genes implicated in myocardial infarction.
Ouwehand WH; Bloodomics and Cardiogenics Consortia. Ouwehand WH, et al. J Thromb Haemost. 2009 Jul;7 Suppl 1:305-7. doi: 10.1111/j.1538-7836.2009.03441.x. J Thromb Haemost. 2009. PMID: 19630822 Free article. Review.
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C. Albers CA, et al. Among authors: ouwehand wh. Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083. Nat Genet. 2012. PMID: 22366785 Free PMC article.
Transcriptional diversity during lineage commitment of human blood progenitors.
Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, Consortium B, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HHD, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nürnberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon A. Chen L, et al. Among authors: ouwehand wh. Science. 2014 Sep 26;345(6204):1251033. doi: 10.1126/science.1251033. Science. 2014. PMID: 25258084 Free PMC article.
369 results