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Results 51-59 of 59 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2008Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizuresWallace, R.; Freeman, J.; Shouri, M.; Izzillo, P.; Rosenfield, J.; Mulley, J.; Harvey, A.; Berkovic, S.
2005Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human n-acetylgalactosamine 4-sulfataseHarmatz, P.; Ketteridge, D.; Giugliani, R.; Guffon, N.; Teles, E.; Miranda, C.; Yu, Z.; Swiedler, S.; Hopwood, J.
2008Anaphylaxis following quadrivalent human papillomavirus vaccinationBrotherton, J.; Gold, M.; Kemp, A.; McIntyre, P.; Burgess, M.; Campbell-Lloyd, S.
2006Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samplesDean, C.; Bockmann, M.; Hopwood, J.; Brooks, D.; Meikle, P.
2004Pancreatic β-cell function and immune responses to insulin after administration of intranasal insulin to humans at risk for type 1 diabetesHarrison, L.; Honeyman, B.; Steele, C.; Stone, N.; Sarugeri, E.; Bonifacio, E.; Couper, J.; Coleman, P.
2007Folic acid does not improve endothelial function in obese children and adolescentsPena Vargas, A.; Wiltshire, E.; Gent, R.; Piotto, L.; Hirte, C.; Couper, J.
2012Developing adolescent-specific health state values for economic evaluation: an application of profile case best-worst scaling to the child health utility 9DRatcliffe, J.; Flynn, T.; Terlich, F.; Stevens, K.; Brazier, J.; Sawyer, M.
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.
2009Staphylococcus aureus bacteraemia: a major cause of mortality in Australia and New ZealandTurnidge, J.; Kotsanas, D.; Munckhof, W.; Roberts, S.; Bennett, C.; Nimmo, G.; Coombs, G.; Murray, R.; Howden, B.; Johnson, P.; Dowling, K.

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