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Results 11-20 of 95 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2020Heterozygous rare genetic variants in non-syndromic early-onset obesitySerra-Juhé, C.; Martos-Moreno, G.; Bou de Pieri, F.; Flores, R.; Chowen, J.A.; Pérez-Jurado, L.A.; Argente, J.
2021Assessing the appropriateness of the management of gastro-oesophageal reflux in Australian children: a population-based sample surveyArnolda, G.; Hiscock, H.; Moore, D.; Farrow, G.; Hibbert, P.D.; Wiles, L.K.; Ting, H.P.; Molloy, C.J.; Warwick, M.; Braithwaite, J.
2021The effects of dietary and lifestyle interventions among pregnant women with overweight or obesity on early childhood outcomes: an individual participant data meta-analysis from randomised trialsLouise, J.; Poprzeczny, A.J.; Deussen, A.R.; Vinter, C.; Tanvig, M.; Jensen, D.M.; Bogaerts, A.; Devlieger, R.; McAuliffe, F.M.; Renault, K.M.; Carlsen, E.; Geiker, N.; Poston, L.; Briley, A.; Thangaratinam, S.; Dodd, J.M.
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.
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.

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