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Results 1-10 of 21 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2019Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, M.A.; Kroes, T.; Veneziano, L.; Bennett, M.F.; Florian, R.; Schneider, A.L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A.-F.; et al.
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
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.
2019Predicting seizures in pregnant women with epilepsy: development and external validation of a prognostic modelAllotey, J.; Fernandez-Felix, B.M.; Zamora, J.; Moss, N.; Bagary, M.; Kelso, A.; Khan, R.; van der Post, J.A.M.; Mol, B.W.; Pirie, A.M.; McCorry, D.; Khan, K.S.; Thangaratinam, S.; Chappell, L.C.
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.