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Results 31-40 of 41 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
2005The Hunter-McAlpine syndrome results from duplication 5q35-qterHunter, A.; DuPont, B.; McLaughlin, M.; Hinton, L.; Baker, E.; Ades, L.; Haan, E.; Schwartz, C.
2012Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): A new autosomal dominant syndromeWorthley, D.; Phillips, K.; Wayte, N.; Schrader, K.; Healey, S.; Kaurah, P.; Shulkes, A.; Grimpen, F.; Clouston, A.; Moore, D.; Cullen, D.; Ormonde, D.; Mounkley, D.; Wen, X.; Lindor, N.; Carniero, F.; Huntsman, D.; Chenevix-Trench, G.; Suthers, G.
2007Unravelling the molecular control of calvarial suture fusion in children with craniosynostosisCoussens, A.; Wilkinson, C.; Hughes, I.; Morris, C.; Van Daal, A.; Anderson, P.; Powell, B.
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.
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.