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Results 41-49 of 49 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2017Long-term efficacy and safety of α1 proteinase inhibitor treatment for emphysema caused by severe α1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE)McElvaney, N.; Burdon, J.; Holmes, M.; Glanville, A.; Wark, P.; Thompson, P.; Hernandez, P.; Chlumsky, J.; Teschler, H.; Ficker, J.; Seersholm, N.; Altraja, A.; Mäkitaro, R.; Chorostowska-Wynimko, J.; Sanak, M.; Stoicescu, P.; Piitulainen, E.; Vit, O.; Wencker, M.; Tortorici, M.; et al.
2018Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk diseaseBranford, S.; Wang, P.; Yeung, D.T.; Thomson, D.; Purins, A.; Wadham, C.; Shahrin, N.H.; Marum, J.E.; Nataren, N.; Parker, W.T.; Geoghegan, J.; Feng, J.; Shanmuganathan, N.; Mueller, M.C.; Dietz, C.; Stangl, D.; Donaldson, Z.; Altamura, H.; Georgievski, J.; Braley, J.; et al.
2018Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderFrints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
2016Characterization of leukemias with ETV6-ABL1 fusionZaliova, M.; Moorman, A.V.; Cazzaniga, G.; Stanulla, M.; Harvey, R.C.; Roberts, K.G.; Heatley, S.L.; Loh, M.L.; Konopleva, M.; Chen, I.M.; Zimmermannova, O.; Schwab, C.; Smith, O.; Mozziconacci, M.J.; Chabannon, C.; Kim, M.; Frederik Falkenburg, J.H.; Norton, A.; Marshall, K.; Haas, O.A.; et al.; Annual Meeting of the American-Society-of-Hematology (5 Dec 2015 - 8 Dec 2015 : Orlando, FL)
2012Common values in assessing health outcomes from disease and injury: Disability weights measurement study for the Global Burden of Disease Study 2010Salomon, J.A.; Vos, T.; Hogan, D.R.; Gagnon, M.; Naghavi, M.; Mokdad, A.; Begum, N.; Shah, R.; Karyana, M.; Kosen, S.; Farje, M.R.; Moncada, G.; Dutta, A.; Sazawal, S.; Dyer, A.; Seiler, J.; Aboyans, V.; Baker, L.; Baxter, A.; Benjamin, E.J.; et al.
2017Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutations, persistence of minimal residual disease and poor prognosisHerold, T.; Schneider, S.; Metzeler, K.; Neumann, M.; Hartmann, L.; Roberts, K.; Konstandin, N.; Greif, P.; Braeundl, K.; Ksienzyk, B.; Huk, N.; Schneider, I.; Zellmeier, E.; Jurinovic, V.; Mansmann, U.; Hiddemann, W.; Mullighan, C.; Bohlander, S.; Spiekermann, K.; Hoelzer, D.; et al.
2015Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013Global Burden of Disease Study 2013 Collaborators,; Vos, T.; Barber, R.; Bell, B.; Bertozzi-Villa, A.; Biryukov, S.; Bolliger, I.; Charlson, F.; Davis, A.; Degenhardt, L.; Dicker, D.; Duan, L.; Erskine, H.; Feigin, V.; Ferrari, A.; Fitzmaurice, C.; Fleming, T.; Graetz, N.; Guinovart, C.; Haagsma, J.; et al.
2008Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genesKisand, K.; Link, M.; Wolff, A.; Meager, A.; Tserel, L.; Org, T.; Murumagi, A.; Uibo, R.; Willcox, N.; Podkrajek, K.; Battelino, T.; Lobell, A.; Kampe, O.; Lima, K.; Meloni, A.; Ergun-Longmire, B.; Maclaren, N.; Perheentupa, J.; Krohn, K.; Scott, H.; et al.

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