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Results 31-40 of 122 (Search time: 0.002 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.
2006Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiencyKnisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
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.
2013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeAoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; 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.
2014The safety of seasonal influenza vaccines in Australian children in 2013Wood, N.; Blyth, C.; Willis, G.; Richmond, P.; Gold, M.; Buttery, J.; Crawford, N.; Crampton, M.; Yin, J.; Chow, M.; Macartney, K.
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.