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Results 51-57 of 57 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2009SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypeSpurlock, G.; Bennett, E.; Chuzhanova, N.; Thomas, N.; H-Ping, J.; Side, L.; Davies, S.; Haan, E.; Kerr, B.; Huson, S.; Upadhyaya, M.
2000Childhood cancer: A 4-year prospective study of the psychological adjustment of children and parentsSawyer, M.; Antoniou, G.; Toogood, I.; Rice, M.; Baghurst, P.
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.
2010Feeding preterm infants milk with a higher dose of docosahexaenoic acid than that used in current practice does not influence language or behavior in early childhood: a follow-up study of a randomized controlled trialSmithers, L.; Collins, C.; Simmonds, L.; Gibson, R.; McPhee, A.; Makrides, M.
1999Partial seizures with focal epileptogenic electroencephalographic patterns in three related female patients with fragile-X syndromeSingh, R.; Sutherland, G.; Manson, J.
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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