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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2019Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assemblyBryen, S.J.; Joshi, H.; Evesson, F.J.; Girard, C.; Ghaoui, R.; Waddell, L.B.; Testa, A.C.; Cummings, B.; Arbuckle, S.; Graf, N.; Webster, R.; MacArthur, D.G.; Laing, N.G.; Davis, M.R.; Lührmann, R.; Cooper, S.T.
2019Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesiaGorman, K.M.; Meyer, E.; Grozeva, D.; Spinelli, E.; McTague, A.; Sanchis-Juan, A.; Carss, K.J.; Bryant, E.; Reich, A.; Schneider, A.L.; Pressler, R.M.; Simpson, M.A.; Debelle, G.D.; Wassmer, E.; Morton, J.; Sieciechowicz, D.; Jan-Kamsteeg, E.; Paciorkowski, A.R.; King, M.D.; Cross, J.H.; et al.
2019Differential patterns of disease and injury in Mozambique: new perspectives from a pragmatic, multicenter, surveillance study of 7809 emergency presentationsMocumbi, A.O.; Cebola, B.; Muloliwa, A.; Sebastiao, F.; Sitefane, S.J.; Manafe, N.; Dobe, I.; Lumbandali, N.; Keates, A.; Stickland, N.; Chan, Y.-K.; Stewart, S.; Silva, J.P.
2013Survival trends in pediatric in-hospital cardiac arrests: an analysis from get with the guidelines-resuscitationGirotra, S.; Spertus, J.A.; Li, Y.; Berg, R.A.; Nadkarni, V.M.; Chan, P.S.
2019General practice registrars' use of dermoscopy Prevalence, associations and influence on diagnosis and confidenceWhiting, G.; Stocks, N.; Morgan, S.; Tapley, A.; Henderson, K.; Holliday, E.; Ball, J.; van Driel, M.; Spike, N.; McArthur, L.; Davey, A.; Magin, P.
2019Genomic subtyping and therapeutic targeting of acute erythroleukemiaIacobucci, I.; Wen, J.; Meggendorfer, M.; Choi, J.K.; Shi, L.; Pounds, S.B.; Carmichael, C.L.; Masih, K.E.; Morris, S.M.; Lindsley, R.C.; Janke, L.J.; Alexander, T.B.; Song, G.; Qu, C.; Li, Y.; Payne-Turner, D.; Tomizawa, D.; Kiyokawa, N.; Valentine, M.; Valentine, V.; et al.
2019Child Health CheckPoint: cohort summary and methodology of a physical health and biospecimen module for the Longitudinal Study of Australian ChildrenClifford, S.A.; Davies, S.; Wake, M.; Azzopardi, P.S.; Baur, L.A.; Burgner, D.P.; Carlin, J.B.; Cheung, M.; Dwyer, T.; Edwards, B.; Ellul, S.; Gillespie, A.N.; Gold, L.; Grobler, A.C.; Kerr, J.A.; Lycett, K.; Lange, K.; Mensah, F.K.; Olds, T.S.; Ranganathan, S.; et al.
2019GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMIAlves, A.C.; De Silva, N.M.G.; Karhunen, V.; Sovio, U.; Das, S.; Rob Taal, H.; Warrington, N.M.; Lewin, A.M.; Kaakinen, M.; Cousminer, D.L.; Thiering, E.; Timpson, N.J.; Bond, T.A.; Lowry, E.; Brown, C.D.; Estivill, X.; Lindi, V.; Bradfield, J.P.; Geller, F.; Speed, D.; et al.
2019Epidemiology of childhood death in Australian and New Zealand intensive care unitsMoynihan, K.M.; Alexander, P.M.A.; Schlapbach, L.J.; Millar, J.; Jacobe, S.; Ravindranathan, H.; Croston, E.J.; Staffa, S.J.; Burns, J.P.; Gelbart, B.; Erickson, S.; Barr, S.; Schlapbach, L.; Schibler, A.; Long, D.; Alexander, J.; Ganeshalingam, A.; Sherring, C.; Williams, G.; Smith, V.; et al.