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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 2 |
2014 | 2 |
2024 | 0 |
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5 results
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Page 1
An atlas of genetic influences on human blood metabolites.
Nat Genet. 2014 Jun;46(6):543-550. doi: 10.1038/ng.2982. Epub 2014 May 11.
Nat Genet. 2014.
PMID: 24816252
Free PMC article.
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
Futema M, Plagnol V, Whittall RA, Neil HA; Simon Broome Register Group; Humphries SE; UK10K.
Futema M, et al.
J Med Genet. 2012 Oct;49(10):644-9. doi: 10.1136/jmedgenet-2012-101189.
J Med Genet. 2012.
PMID: 23054246
Free PMC article.
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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C.
Schmidts M, et al.
Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294.
Hum Mutat. 2013.
PMID: 23418020
Free PMC article.
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Managing clinically significant findings in research: the UK10K example.
Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple R, Spector T; UK 10K.
Kaye J, et al.
Eur J Hum Genet. 2014 Sep;22(9):1100-4. doi: 10.1038/ejhg.2013.290. Epub 2014 Jan 15.
Eur J Hum Genet. 2014.
PMID: 24424120
Free PMC article.
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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P; UK10K Consortium; Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F.
Cirak S, et al.
Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.
Brain. 2013.
PMID: 23288328
Free PMC article.
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