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Results 1-10 of 13 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2014Inactivating mutations in NPC1L1 and protection from coronary heart diseaseStitziel, N.O.; Won, H.H.; Morrison, A.C.; Peloso, G.M.; Do, R.; Lange, L.A.; Fontanillas, P.; Gupta, N.; Duga, S.; Goel, A.; Farrall, M.; Saleheen, D.; Ferrario, P.; König, I.; Asselta, R.; Merlini, P.A.; Marziliano, N.; Notarangelo, M.F.; Schick, U.; Auer, P.; et al.
2014Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testingBuchanan, D.; Tan, Y.; Walsh, M.; Clendenning, M.; Metcalf, A.; Ferguson, K.; Arnold, S.; Thompson, B.; Lose, F.; Parsons, M.; Walters, R.; Pearson, S.; Cummings, M.; Oehler, M.; Blomfield, P.; Quinn, M.; Kirk, J.; Stewart, C.; Obermair, A.; Young, J.; et al.
2014Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumorLim, M.; Ooi, B.; Jungebluth, P.; Sjöqvist, S.; Hultman, I.; Lemon, G.; Gustafsson, Y.; Asmundsson, J.; Baiguera, S.; Douagi, I.; Gilevich, I.; Popova, A.; Haag, J.; Rodríguez, A.; Lim, J.; Liedén, A.; Nordenskjöld, M.; Alici, E.; Baker, D.; Unger, C.; et al.; Burns, J.
2014Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucomaGharahkhani, P.; Burdon, K.; Fogarty, R.; Sharma, S.; Hewitt, A.; Martin, S.; Law, M.; Cremin, K.; Bailey, J.; Loomis, S.; Pasquale, L.; Haines, J.; Hauser, M.; Viswanathan, A.; McGuffin, P.; Topouzis, F.; Foster, P.; Graham, S.; Casson, R.; Chehade, M.; et al.
2014MicroRNA related polymorphisms and breast cancer riskKhan, S.; Greco, D.; Michailidou, K.; Milne, R.; Muranen, T.; Heikkinen, T.; Aaltonen, K.; Dennis, J.; Bolla, M.; Liu, J.; Hall, P.; Irwanto, A.; Humphreys, K.; Li, J.; Czene, K.; Chang-Claude, J.; Hein, R.; Rudolph, A.; Seibold, P.; Flesch-Janys, D.; et al.; Zhao, Z.
2014Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung functionTang, W.; Kowgier, M.; Loth, D.; Soler Artigas, M.; Joubert, B.; Hodge, E.; Gharib, S.; Smith, A.; Ruczinski, I.; Gudnason, V.; Mathias, R.; Harris, T.; Hansel, N.; Launer, L.; Barnes, K.; Hansen, J.; Albrecht, E.; Aldrich, M.; Allerhand, M.; Barr, R.; et al.; Chen, L.
2014LgG4 immunostaining and its implications in orbital inflammatory diseaseWong, A.; Planck, S.; Choi, D.; Harrington, C.; Troxell, M.; Houghton, D.; Stauffer, P.; Wilson, D.; Grossniklaus, H.; Dailey, R.; Ng, J.; Steele, E.; Harris, G.; Czyz, C.; Foster, J.; White, V.; Dolman, P.; Kazim, M.; Patel, P.; Edward, D.; et al.; Wallace, G.
2014Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on Body Mass IndexHoggart, C.; Venturini, G.; Mangino, M.; Gomez, F.; Ascari, G.; Zhao, J.; Teumer, A.; Winkler, T.; Tšernikova, N.; Luan, J.; Mihailov, E.; Ehret, G.; Zhang, W.; Lamparter, D.; Esko, T.; Macé, A.; Rüeger, S.; Bochud, P.; Barcella, M.; Dauvilliers, Y.; et al.; Visscher, P.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
2014Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanomaAoude, L.; Pritchard, A.; Robles-Espinoza, C.; Wadt, K.; Harland, M.; Choi, J.; Gartside, M.; Quesada, V.; Johansson, P.; Palmer, J.; Ramsay, A.; Zhang, X.; Jones, K.; Symmons, J.; Holland, E.; Schmid, H.; Bonazzi, V.; Woods, S.; Dutton-Regester, K.; Stark, M.; et al.