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Results 21-30 of 200 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2021Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plusHeron, S.E.; Regan, B.M.; Harris, R.V.; Gardner, A.E.; Coleman, M.J.; Bennett, M.F.; Grinton, B.E.; Helbig, K.L.; Sperling, M.R.; Haut, S.; Geller, E.B.; Widdess-Walsh, P.; Pelekanos, J.T.; Bahlo, M.; Petrovski, S.; Heinzen, E.L.; Hildebrand, M.S.; Corbett, M.A.; Scheffer, I.E.; Gecz, J.; et al.
2021Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; et al.
2020Effects of allopurinol on the progression of chronic kidney diseaseBadve, S.V.; Pascoe, E.M.; Tiku, A.; Boudville, N.; Brown, F.G.; Cass, A.; Clarke, P.; Dalbeth, N.; Day, R.O.; de Zoysa, J.R.; Douglas, B.; Faull, R.; Harris, D.C.; Hawley, C.M.; Jones, G.R.D.; Kanellis, J.; Palmer, S.C.; Perkovic, V.; Rangan, G.K.; Reidlinger, D.; 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.
2017Electrophysiological, cognitive and clinical profiles of at-risk mental state: the longitudinal minds in transition (MinT) studyAtkinson, R.J.; Fulham, W.R.; Michie, P.T.; Ward, P.B.; Todd, J.; Stain, H.; Langdon, R.; Thienel, R.; Paulik, G.; Cooper, G.; Anthes, L.; Bowen, D.; Case, V.; Clark, S.; Collins-Langworthy, J.; Curtis, J.; Ehlkes, T.; Haddow, T.; Lawrence, C.; Logan, S.; et al.; Hashimoto, K.
2020Safety and efficacy of fluoxetine on functional outcome after acute stroke (AFFINITY): a randomised, double-blind, placebo-controlled trialHankey, G.J.; Hackett, M.L.; Almeida, O.P.; Flicker, L.; Mead, G.E.; Dennis, M.S.; Etherton-Beer, C.; Ford, A.H.; Billot, L.; Jan, S.; Lung, T.; Murray, V.; Lundström, E.; Anderson, C.S.; Herbert, R.; Carter, G.; Donnan, G.A.; Nguyen, H.T.; Gommans, J.; Yi, Q.; et al.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2018A four-gene lincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patientsBeck, D.; Thoms, J.; Palu, C.; Herold, T.; Shah, A.; Olivier, J.; Boelen, L.; Huang, Y.; Chacon, D.; Brown, A.; Babic, M.; Hahn, C.; Perugini, M.; Zhou, X.; Huntly, B.; Schwarzer, A.; Klusmann, J.-H.; Berdel, W.; Wörmann, B.; Büchner, T.; et al.
2014Inactivating mutations in NPC1L1 and protection from coronary heart diseaseStitziel, N.O.; Won, H.H.; Morrison, A.C.; Peloso, G.M.; Do, R.; Lange, L.A.; Fontanillas, P.; Gupta, N.; Duga, S.; Goel, A.; Farrall, M.; Saleheen, D.; Ferrario, P.; König, I.; Asselta, R.; Merlini, P.A.; Marziliano, N.; Notarangelo, M.F.; Schick, U.; Auer, P.; 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.

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