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PreviewIssue DateTitleAuthor(s)
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,
2005Prediction of neuropathology in mucopolysaccharidosis I patientsFuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
2009Collagen type III alpha 1 is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus herniaAsling, B.; Jirholt, J.; Hammond, P.; Knutsson, M.; Walentinsson, A.; Davidson, G.; Agreus, L.; Lehmann, A.; Lagerstrom-Fermer, M.

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