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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.
2020Contemporary Incidence and Prevalence of Rheumatic Fever and Rheumatic Heart Disease in Australia Using Linked Data: The Case for Policy ChangeKatzenellenbogen, J.M.; Bond-Smith, D.; Seth, R.J.; Dempsey, K.; Cannon, J.; Stacey, I.; Wade, V.; de Klerk, N.; Greenland, M.; Sanfilippo, F.M.; Brown, A.; Carapetis, J.R.; Wyber, R.; Nedkoff, L.; Hung, J.; Bessarab, D.; Ralph, A.P.
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.
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.
2020The association between age of onset of type 2 diabetes with the long-term risk of end-stage kidney disease: a National Registry studyMorton, J.I.; Liew, D.; McDonald, S.P.; Shaw, J.E.; Magliano, D.J.
2011Methodological issues associated with collecting sensitive information over the telephone - experience from an Australian non-suicidal self-injury (NSSI) prevalence studyTaylor, A.; Martin, G.; DalGrande, E.; Swannell, S.; Fullerton, S.; Hazell, P.; Harrison, J.
2011Changes in cystic fibrosis mortality in Australia, 1979-2005Reid, D.; Leigh Blizzard, C.; Shugg, D.; Flowers, C.; Cash, C.; Greville, H.
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.