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KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Cell. 2013 Nov 7;155(4):765-77. doi: 10.1016/j.cell.2013.09.058.
Cell. 2013.
PMID: 24209692
Free PMC article.
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S.
Farooqi IS, et al. Among authors: bottomley b.
N Engl J Med. 2007 Jan 18;356(3):237-47. doi: 10.1056/NEJMoa063988.
N Engl J Med. 2007.
PMID: 17229951
Free PMC article.
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High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison.
Davies H, Dicks E, Stephens P, Cox C, Teague J, Greenman C, Bignell G, O'meara S, Edkins S, Parker A, Stevens C, Menzies A, Blow M, Bottomley B, Dronsfield M, Futreal PA, Stratton MR, Wooster R.
Davies H, et al. Among authors: bottomley b.
Genomics. 2006 Mar;87(3):427-32. doi: 10.1016/j.ygeno.2005.11.008. Epub 2006 Jan 9.
Genomics. 2006.
PMID: 16406726
Free article.
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