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Results 1-10 of 21 (Search time: 0.004 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.
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.
1997Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneSampson, J.; Maheshwar, M.; Aspinwall, R.; Thompson, P.; Cheadle, J.; Ravine, D.; Roy, S.; Haan, E.; Bernstein, J.; Harris, P.
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.