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PreviewIssue DateTitleAuthor(s)
2015Brain structural and microstructural alterations associated with cerebral palsy and motor impairments in adolescents born extremely preterm and/or extremely low birthweightKelly, C.E.; Chan, L.; Burnett, A.C.; Lee, K.J.; Connelly, A.; Anderson, P.J.; Doyle, L.W.; Cheong, J.L.Y.; Thompson, D.K.
2014Rural Environments and Community Health (REACH): a randomised controlled trial protocol for an online walking intervention in rural adultsMitchell, B.; Lewis, N.; Smith, A.; Rowlands, A.; Parfitt, G.; Dollman, J.
2014Neural correlates of impaired vision in adolescents born extremely preterm and/or extremely low birthweightKelly, C.E.; Cheong, J.L.Y.; Molloy, C.; Anderson, P.J.; Lee, K.J.; Burnett, A.C.; Connelly, A.; Doyle, L.W.; Thompson, D.K.; Ding, Z.
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.
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.
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.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
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.