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Results 11-20 of 55 (Search time: 0.001 seconds).
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PreviewIssue DateTitleAuthor(s)
2013Short report: care for children and adolescents with diabetes in Australia and New Zealand: have we achieved the defined goals?Cameron, F.; Cotterill, A.; Couper, J.; Craig, M.; Davis, E.; Donaghue, K.; Jones, T.; King, B.; Sheil, B.
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
2006FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisitedAdes, L.; Sullivan, K.; Biggin, A.; Haan, E.; Brett, M.; Holman, K.; Dixon, J.; Robertson, S.; Holmes, A.; Rogers, J.; Bennetts, B.
2004Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIHermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
2002The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatmentGaustadnes, M.; Wilcken, B.; Oliveriusova, J.; McGill, J.; Fletcher, J.; Kraus, J.; Wilcken, D.
2018A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at RiskRedondo, M.J.; Geyer, S.; Steck, A.K.; Sharp, S.; Wentworth, J.M.; Weedon, M.N.; Antinozzi, P.; Sosenko, J.; Atkinson, M.; Pugliese, A.; Oram, R.A.; Type 1 Diabetes TrialNet Study Group,
2010Testicular and paratesticular pathology in children: a 12-year histopathological reviewMarulaiah, M.; Gilhotra, A.; Moore, L.; Boucaut, H.; Goh, D.
2000Magnetic resonance imaging of growth plate injuries: the efficacy and indications for surgical proceduresFutami, T.; Foster, B.; Morris, L.; LeQuesne, G.
2010Chemokine/Chemokine receptor interactions in extramedullary leukaemia of the skin in childhood AML: Differential roles for CCR2, CCR5, CXCR4 and CXCR7Faaij, C.; Willemze, A.; Revesz, T.; Balzarolo, M.; Tensen, C.; Hoogeboom, M.; Vermeer, M.; van Wering, E.; Zwaan, C.; Kaspers, G.; Story, C.; van Halteren, A.; Vossen, J.; Egeler, R.; van Tol, M.; Annels, N.
2001Active observation of children with possible appendicitis does not increase morbidityKirby, C.; Sparnon, A.

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