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Results 1-10 of 74 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
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.
2020Coronavirus disease 2019 in patients with inborn errors of immunity: an international studyMeyts, I.; Bucciol, G.; Quinti, I.; Neven, B.; Fischer, A.; Seoane, E.; Lopez-Granados, E.; Gianelli, C.; Robles-Marhuenda, A.; Jeandel, P.Y.; Paillard, C.; Sankaran, V.G.; Demirdag, Y.Y.; Lougaris, V.; Aiuti, A.; Plebani, A.; Milito, C.; Dalm, V.A.; Guevara-Hoyer, K.; Sánchez-Ramón, S.; 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.
2023Transnasal Humidified Rapid Insufflation Ventilatory Exchange in children requiring emergent intubation (Kids THRIVE): a statistical analysis plan for a randomised controlled trialGeorge, S.; Gibbons, K.; Williams, T.; Humphreys, S.; Gelbart, B.; Le Marsney, R.; Craig, S.; Tingay, D.; Chavan, A.; Schibler, A.; Cronin, J.; Pearson, K.; Rasmussen, K.; Acworth, J.; Hickey, L.; Delzoppo, C.; Perkins, E.; Oberender, F.; Waghorn, J.; McCahill, C.; et al.

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