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Results 1-10 of 35 (Search time: 0.002 seconds).
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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.
2023Machine learning to predict poor school performance in paediatric survivors of intensive care: a population-based cohort studyGilholm, P.; Gibbons, K.; Brüningk, S.; Klatt, J.; Vaithianathan, R.; Long, D.; Millar, J.; Tomaszewski, W.; Schlapbach, L.J.; Ganeshalingam, A.; Sherring, C.; Erickson, S.; Barr, S.; Raman, S.; Long, D.; Schlapbach, L.; Gibbons, K.; George, S.; Singh, P.; Smith, V.; et al.
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.
2021Protocol for assessing if behavioural functioning of infants born <29 weeks' gestation is improved by omega-3 long-chain polyunsaturated fatty acids: follow-up of a randomised controlled trialGould, J.F.; Roberts, R.M.; Anderson, P.J.; Makrides, M.; Sullivan, T.R.; Gibson, R.A.; McPhee, A.J.; Doyle, L.W.; Opie, G.; Travadi, J.; Cheong, J.L.Y.; Davis, P.G.; Sharp, M.; Simmer, K.; Tan, K.; Morris, S.; Lui, K.; Bolisetty, S.; Liley, H.; Stack, J.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
2014Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumorLim, M.; Ooi, B.; Jungebluth, P.; Sjöqvist, S.; Hultman, I.; Lemon, G.; Gustafsson, Y.; Asmundsson, J.; Baiguera, S.; Douagi, I.; Gilevich, I.; Popova, A.; Haag, J.; Rodríguez, A.; Lim, J.; Liedén, A.; Nordenskjöld, M.; Alici, E.; Baker, D.; Unger, C.; et al.; Burns, J.
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.

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