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Results 1-10 of 25 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Transcranial correction of orbital neurofibromatosisSnyder, B.; Hanieh, A.; Trott, J.; David, D.
2000Saposins A,B,C, and D in plasma of patients with lysosomal storage disordersChang, M.; Bindloss, C.; Grabowski, G.; Qi, X.; Winchester, B.; Hopwood, J.; Meikle, P.
1998Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disordersHua, C.; Hopwood, J.; Carlsson, S.; Harris, R.; Meikle, P.
1995Immunoglobulin M capture immunoassay in investigation of coxsackie B5 and B6 outbreaks in South AustraliaGoldwater, P.
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.
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,
2005Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalitiesO'Donoghue, F.; Camfferman, D.; Kennedy, J.; Martin, A.; Couper, T.; Lack, L.; Lushington, K.; McEvoy, R.
2002National study of adverse reactions after vaccination with bacille Calmette-GuérinTurnbull, F.; McIntyre, P.; Achat, H.; Wang, H.; Stapledon, R.; Gold, M.; Burgess, M.