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Results 31-40 of 119 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2005Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Swiedler, S.; Beck, M.; Bajbouj, M.; Giugliani, R.; Schwartz, I.; Harmatz, P.; Wraith, J.; Roberts, J.; Ketteridge, D.; Hopwood, J.; Guffon, N.; Miranda, C.; Teles, E.; Berger, K.; Piscia-Nichols, C.
2013Parental and societal support for adolescent immunization through school based immunization programsMarshall, H.; Collins, J.; Sullivan, T.; Tooher, R.; O'Keefe, M.; Skinner, S.; Watson, M.; Burgess, T.; Ashmeade, H.; Braunack-Mayer, A.
2007Molecular consequences of dominant Bethlem myopathy collagen VI mutationsBaker, N.; Morgelin, M.; Pace, R.; Peat, R.; Adams, N.; Gardner, R.; Rowland, L.; Miller, G.; De Jonghe, P.; Ceulemans, B.; Hannibal, M.; Edwards, M.; Thompson, E.; Jacobson, R.; Quinlivan, R.; Aftimos, S.; Kornberg, A.; North, K.; Bateman, J.; Lamande, 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.
1998Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, S.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsScheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
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,
2006A pilot study of the safety implications of Australian nurses' sleep and work hoursDorrian, J.; Lamond, N.; van den Heuvel, C.; Pincombe, J.; Rogers, A.; Drew, D.
2005Erythromycin dose of 70 mg accelerates gastric emptying as effectively as 200 mg in the critically illRitz, M.; Chapman, M.; Fraser, R.; Finnis, M.; Butler, R.; Cmielewski, P.; Davidson, G.; Rea, D.