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Results 11-20 of 21 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2012A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010Lim, S.; Vos, T.; Flaxman, A.; Danaei, G.; Shibuya, K.; Adair-Rohani, H.; AlMazroa, M.; Amann, M.; Anderson, H.; Andrews, K.; Aryee, M.; Atkinson, C.; Bacchus, L.; Bahalim, A.; Balakrishnan, K.; Balmes, J.; Barker-Collo, S.; Baxter, A.; Bell, M.; Blore, J.; et al.
2016Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemiaIrving, J.; Enshaei, A.; Parker, C.; Sutton, R.; Kuiper, R.; Erhorn, A.; Minto, L.; Venn, N.; Law, T.; Yu, J.; Schwab, C.; Davies, R.; Matheson, E.; Davies, A.; Sonneveld, E.; Den Boer, M.; Love, S.; Harrison, C.; Hoogerbrugge, P.; Revesz, T.; et al.
2015Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyMirzaa, G.M.; Conti, V.; Timms, A.E.; Smyser, C.D.; Ahmed, S.; Carter, M.; Barnett, S.; Hufnagel, R.B.; Goldstein, A.; Narumi-Kishimoto, Y.; Olds, C.; Collins, S.; Johnston, K.; Deleuze, J.F.; Nitschké, P.; Friend, K.; Harris, C.; Goetsch, A.; Martin, B.; Boyle, E.A.; et al.
2012Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010Murray, C.; Vos, T.; Lozano, R.; Naghavi, M.; Flaxman, A.; Michaud, C.; Ezzati, M.; Shibuya, K.; Salomon, J.; Abdalla, S.; Aboyans, V.; Abraham, J.; Ackerman, I.; Aggarwal, R.; Ahn, S.; Ali, M.; Alvarado, M.; Anderson, H.; Anderson, L.; Andrews, K.; et al.
2012Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010Vos, T.; Flaxman, A.; Naghavi, M.; Lozano, R.; Michaud, C.; Ezzati, M.; Shibuya, K.; Salomon, J.; Abdalla, S.; Aboyans, V.; Abraham, J.; Ackerman, I.; Aggarwal, R.; Ahn, S.; Ali, M.; Alvarado, M.; Anderson, H.; Anderson, L.; Andrews, K.; Atkinson, C.; et al.
2017High prevalence of relapse in children with Philadelphia-like acute lymphoblastic leukemia despite risk-adapted treatmentHeatley, S.L.; Sadras, T.; Kok, C.H.; Nievergall, E.; Quek, K.; Dang, P.; McClure, B.; Venn, N.; Moore, S.; Suttle, J.; Law, T.; Ng, A.; Muskovic, W.; Norris, M.D.; Revesz, T.; Osborn, M.; Moore, A.S.; Suppiah, R.; Fraser, C.; Alvaro, F.; 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.
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)