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998 results

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Page 1
Epigenetic signatures of Silver-Russell syndrome.
Abu-Amero S, Wakeling EL, Preece M, Whittaker J, Stanier P, Moore GE. Abu-Amero S, et al. Among authors: whittaker j. J Med Genet. 2010 Mar;47(3):150-4. doi: 10.1136/jmg.2009.071316. J Med Genet. 2010. PMID: 20305090 Review. No abstract available.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease.
Hubner N, Wallace CA, Zimdahl H, Petretto E, Schulz H, Maciver F, Mueller M, Hummel O, Monti J, Zidek V, Musilova A, Kren V, Causton H, Game L, Born G, Schmidt S, Müller A, Cook SA, Kurtz TW, Whittaker J, Pravenec M, Aitman TJ. Hubner N, et al. Among authors: whittaker j. Nat Genet. 2005 Mar;37(3):243-53. doi: 10.1038/ng1522. Epub 2005 Feb 13. Nat Genet. 2005. PMID: 15711544
Sixty-five common genetic variants and prediction of type 2 diabetes.
Talmud PJ, Cooper JA, Morris RW, Dudbridge F, Shah T, Engmann J, Dale C, White J, McLachlan S, Zabaneh D, Wong A, Ong KK, Gaunt T, Holmes MV, Lawlor DA, Richards M, Hardy R, Kuh D, Wareham N, Langenberg C, Ben-Shlomo Y, Wannamethee SG, Strachan MW, Kumari M, Whittaker JC, Drenos F, Kivimaki M, Hingorani AD, Price JF, Humphries SE; UCLEB Consortium. Talmud PJ, et al. Among authors: whittaker jc. Diabetes. 2015 May;64(5):1830-40. doi: 10.2337/db14-1504. Epub 2014 Dec 4. Diabetes. 2015. PMID: 25475436 Free PMC article.
Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy.
Van Mil SW, Milona A, Dixon PH, Mullenbach R, Geenes VL, Chambers J, Shevchuk V, Moore GE, Lammert F, Glantz AG, Mattsson LA, Whittaker J, Parker MG, White R, Williamson C. Van Mil SW, et al. Among authors: whittaker j. Gastroenterology. 2007 Aug;133(2):507-16. doi: 10.1053/j.gastro.2007.05.015. Epub 2007 May 23. Gastroenterology. 2007. PMID: 17681172
Genetic variants associated with Von Willebrand factor levels in healthy men and women identified using the HumanCVD BeadChip.
Zabaneh D, Gaunt TR, Kumari M, Drenos F, Shah S, Berry D, Power C, Hypponen E, Shah T, Palmen J, Pallas J, Talmud PJ, Casas JP, Sofat R, Lowe G, Rumley A, Morris RW, Whincup PH, Rodriguez S, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Kivimaki M, Whittaker J, Hingorani AD, Day IN, Humphries SE. Zabaneh D, et al. Among authors: whittaker j. Ann Hum Genet. 2011 Jul;75(4):456-67. doi: 10.1111/j.1469-1809.2011.00654.x. Epub 2011 Apr 28. Ann Hum Genet. 2011. PMID: 21534939
998 results