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Results 21-30 of 71 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2015Butanolysis derivatization: improved sensitivity in LC-MS/MS quantitation of heparan sulfate in urine from mucopolysaccharidosis patientsTrim, P.; Hopwood, J.; Snel, M.
2015The prevalence of non-alcoholic fatty liver disease in children and adolescents: a systematic review and meta-analysisAnderson, E.; Howe, L.; Jones, H.; Higgins, J.; Lawlor, D.; Fraser, A.; Wong, V.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
2014Body frame variation and adiposity in development, a mixed-longitudinal study of "Cape Coloured" childrenLucas, T.; Henneberg, M.
2013Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposityCousminer, D.; Berry, D.; Timpson, N.; Ang, W.; Thiering, E.; Byrne, E.; Taal, H.; Huikari, V.; Bradfield, J.; Kerkhof, M.; Groen-Blokhuis, M.; Kreiner-Møller, E.; Marinelli, M.; Holst, C.; Leinonen, J.; Perry, J.; Surakka, I.; Kettunen, J.; Anttila, V.; Kaakinen, M.; et al.
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.
2013Childhood maltreatment is associated with an automatic negative emotion processing bias in the amygdalaDannlowski, U.; Kugel, H.; Huber, F.; Stuhrmann, A.; Redlich, R.; Grotegerd, D.; Dohm, K.; Sehlmeyer, C.; Konrad, C.; Baune, B.; Arolt, V.; Heindel, W.; Zwitserlood, P.; Suslow, T.
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.
2013Cause-specific mortality and 30-year relative survival of Crohn's disease and ulcerative colitisSelinger, C.; Andrews, J.; Dent, O.; Norton, I.; Jones, B.; McDonald, C.; Cowlishaw, J.; Barr, G.; Selby, W.; Leong, R.