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PreviewIssue DateTitleAuthor(s)
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.
2002National study of adverse reactions after vaccination with bacille Calmette-GuérinTurnbull, F.; McIntyre, P.; Achat, H.; Wang, H.; Stapledon, R.; Gold, M.; Burgess, M.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2013Parental perspectives of vaccine safety and experience of adverse events following immunisationParrella, A.; Gold, M.; Marshall, H.; Braunack-Mayer, A.; Baghurst, P.
1997The spectrum of primary immundeficiency disorders in AustraliaBaumgart, K.; Britton, W.; Kemp, A.; French, M.; Roberton, D.
1995Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosisCouper, R.; Corey, M.; Durie, P.; Forstner, G.; Moore, D.
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.
2017Family functioning and mood and anxiety symptoms in adolescents born extremely pretermBurnett, A.C.; Lee, K.J.; Cheong, J.L.Y.; De Luca, C.R.; Roberts, G.; Wood, S.J.; Doyle, L.W.; Anderson, P.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.