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Results 31-40 of 131 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
1999A comparison of parent and adolescent reports describing the health-related quality of life of adolescents treated for cancerSawyer, M.; Antoniou, G.; Toogood, I.; Rice, M.
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.
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.
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.
2013Synthetic versus plaster of Paris casts in the treatment of fractures of the forearm in children: a randomised trial of clinical outcomes and patient satisfactionInglis, M.; McClelland, B.; Sutherland, L.; Cundy, P.
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,
2006Intracellular cytokies in peripheral blood leucocytes in children with chronic renal failureNairn, J.; Hodge, G.; Henning, P.
2000Magnetic resonance imaging of growth plate injuries: the efficacy and indications for surgical proceduresFutami, T.; Foster, B.; Morris, L.; LeQuesne, G.