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PreviewIssue DateTitleAuthor(s)
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, E.; Rosenfeld, H.; Kampmann, C.; Johnson, J.; Beck, M.; Giugliani, R.; Guffon, N.; Ketteridge, D.; Miranda, C.; Scarpa, M.; Schwartz, I.; Teles, E.; Wraith, J.; Barrios, P.; Dias da Silva, E.; Kurio, G.; Richardson, M.; Gildengorin, G.; Hopwood, J.; Imperiale, M.; et al.
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.
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.
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,
2011A novel method for the nonradiological assessment of ineffective swallowingOmari, T.; Dejaeger, E.; Van Beckevoort, D.; Goeleven, A.; de Cock, P.; Hoffman, I.; Smet, M.; Davidson, G.; Tack, J.; Rommel, N.
2013Parental perspectives of vaccine safety and experience of adverse events following immunisationParrella, A.; Gold, M.; Marshall, H.; Braunack-Mayer, A.; Baghurst, P.
2012Safety, immunogenicity, and tolerability of meningococcal serogroup B bivalent recombinant lipoprotein 2086 vaccine in healthy adolescents: a randomised, single-blind, placebo-controlled, phase 2 trialRichmond, P.; Marshall, H.; Nissen, M.; Jiang, Q.; Jansen, K.; Garces-Sanchez, M.; Martinon-Torres, F.; Beeslaar, J.; Szenborn, L.; Wysocki, J.; Eiden, J.; Harris, S.; Jones, T.; Perez, J.
2012Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): A new autosomal dominant syndromeWorthley, D.; Phillips, K.; Wayte, N.; Schrader, K.; Healey, S.; Kaurah, P.; Shulkes, A.; Grimpen, F.; Clouston, A.; Moore, D.; Cullen, D.; Ormonde, D.; Mounkley, D.; Wen, X.; Lindor, N.; Carniero, F.; Huntsman, D.; Chenevix-Trench, G.; Suthers, G.
2012Developing adolescent-specific health state values for economic evaluation: an application of profile case best-worst scaling to the child health utility 9DRatcliffe, J.; Flynn, T.; Terlich, F.; Stevens, K.; Brazier, J.; Sawyer, M.
2018Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderFrints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.