1. Adelaide Research & Scholarship

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Results 31-39 of 39 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
1999Lung function outcome in children of premature birth [Review]Kennedy, J.
1999Functional lymphocyte immunophenotypes observed in thalassaemia and haemophilia patients receiving current blood product preparationsHodge, G.; Lloyd, J.; Hodge, S.; Story, C.; Han, P.
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.
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.
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.
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.
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.
2001Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patientsPerkins, K.; Muller, V.; Weber, B.; Hopwood, J.

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