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Results 11-20 of 252 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
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.
2017Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traitsJustice, A.; Winkler, T.; Feitosa, M.; Graff, M.; Fisher, V.; Young, K.; Barata, L.; Deng, X.; Czajkowski, J.; Hadley, D.; Ngwa, J.; Ahluwalia, T.; Chu, A.; Heard-Costa, N.; Lim, E.; Perez, J.; Eicher, J.; Kutalik, Z.; Xue, L.; Mahajan, A.; 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.
2017Relations between lipoprotein(a) concentrations, LPA genetic variants, and the risk of mortality in patients with established coronary heart disease: a molecular and genetic association studyZewinger, S.; Kleber, M.E.; Tragante, V.; McCubrey, R.O.; Schmidt, A.F.; Direk, K.; Laufs, U.; Werner, C.; Koenig, W.; Rothenbacher, D.; Mons, U.; Breitling, L.P.; Brenner, H.; Jennings, R.T.; Petrakis, I.; Triem, S.; Klug, M.; Filips, A.; Blankenberg, S.; Waldeyer, C.; et al.
2012Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22Cicek, M.; Cunningham, J.; Fridley, B.; Serie, D.; Bamlet, W.; Diergaarde, B.; Haile, R.; Le Marchand, L.; Krontiris, T.; Younghusband, H.; Gallinger, S.; Newcomb, P.; Hopper, J.; Jenkins, M.; Casey, G.; Schumacher, F.; Chen, Z.; DeRycke, M.; Templeton, A.; Winship, I.; et al.; Lo, A.
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.
2013A phase 2 trial of ponatinib in Philadelphia chromosome-positive leukemiasCortes, J.E.; Kim, D.W.; Pinilla-Ibarz, J.; Le Coutre, P.; Paquette, R.; Chuah, C.; Nicolini, F.E.; Apperley, J.F.; Khoury, H.J.; Talpaz, M.; DiPersio, J.; DeAngelo, D.J.; Abruzzese, E.; Rea, D.; Baccarani, M.; Müller, M.C.; Gambacorti-Passerini, C.; Wong, S.; Lustgarten, S.; Rivera, V.M.; et al.
2014Connective tissue disease related interstitial lung diseases and idiopathic pulmonary fibrosis: provisional core sets of domains and instruments for use in clinical trialsSaketkoo, L.; Mittoo, S.; Huscher, D.; Khanna, D.; Dellaripa, P.; Distler, O.; Flaherty, K.; Frankel, S.; Oddis, C.; Denton, C.; Fischer, A.; Kowal-Bielecka, O.; Lesage, D.; Merkel, P.; Phillips, K.; Pittrow, D.; Swigris, J.; Antoniou, K.; Baughman, R.; Castelino, F.; et al.
2014Implementing evidence-based recommended practices for the management of patients with mild traumatic brain injuries in Australian emergency care departments: Study protocol for a cluster randomised controlled trialBosch, M.; McKenzie, J.E.; Mortimer, D.; Tavender, E.J.; Francis, J.J.; Brennan, S.E.; Knott, J.C.; Ponsford, J.L.; Pearce, A.; O'Connor, D.A.; Grimshaw, J.M.; Rosenfeld, J.V.; Gruen, R.L.; Green, S.E.; Bayley, M.; Buchan, H.; Cameron, P.; Cooper, J.; Ellis, N.; Fitzgerald, M.; et al.

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