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PreviewIssue DateTitleAuthor(s)
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
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.
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.
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.
2009Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2Ghalamkarpour, A.; Debauche, C.; Haan, E.; Van Regemorter, N.; Snzajer, Y.; Thomas, D.; Revencu, N.; Gillerot, Y.; Boon, L.; Vikkula, M.
2000Analysis of the breath hydrogen test for carbohydrate malabsorption: Validation of a pocket-sized breath test analysierLee, W.; Davidson, G.; Moore, D.; Butler, R.
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.

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