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PreviewIssue DateTitleAuthor(s)
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.
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.
2021Advanced glycation end products as predictors of renal function in youth with type 1 diabetesForbes, J.M.; Le Bagge, S.; Righi, S.; Fotheringham, A.K.; Gallo, L.A.; McCarthy, D.A.; Leung, S.; Baskerville, T.; Nisbett, J.; Morton, A.; Teasdale, S.; D’Silva, N.; Barrett, H.; Jones, T.; Couper, J.; Donaghue, K.; Isbel, N.; Johnson, D.W.; Donnellan, L.; Deo, P.; et al.
2021Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemiaOchi, Y.; Yoshida, K.; Huang, Y.-J.; Kuo, M.-C.; Nannya, Y.; Sasaki, K.; Mitani, K.; Hosoya, N.; Hiramoto, N.; Ishikawa, T.; Branford, S.; Shanmuganathan, N.; Ohyashiki, K.; Takahashi, N.; Takaku, T.; Tsuchiya, S.; Kanemura, N.; Nakamura, N.; Ueda, Y.; Yoshihara, S.; et al.
2021T-Cell Expression and Release of Kidney Injury Molecule-1 in Response to Glucose Variations Initiates Kidney Injury in Early Diabetes.Forbes, J.M.; McCarthy, D.A.; Kassianos, A.J.; Baskerville, T.; Fotheringham, A.K.; Giuliani, K.T.K.; Grivei, A.; Murphy, A.J.; Flynn, M.C.; Sullivan, M.A.; Chandrashekar, P.; Whiddett, R.; Radford, K.J.; Flemming, N.; Beard, S.S.; D'Silva, N.; Nisbet, J.; Morton, A.; Teasdale, S.; Russell, A.; et al.
2021PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesGuimier, A.; Achleitner, M.T.; Moreau de Bellaing, A.; Edwards, M.; de Pontual, L.; Mittal, K.; Dunn, K.E.; Grove, M.E.; Tysoe, C.J.; Dimartino, C.; Cameron, J.; Kanthi, A.; Shukla, A.; van den Broek, F.; Chatterjee, D.; Alston, C.L.; Knowles, C.V.; Brett, L.; Till, J.A.; Homfray, T.; et al.
2021Repetitive transcranial magnetic stimulation (rTMS) in autism spectrum disorder: protocol for a multicentre randomised controlled clinical trialEnticott, P.G.; Barlow, K.; Guastella, A.J.; Licari, M.K.; Rogasch, N.C.; Middeldorp, C.M.; Clark, S.R.; Vallence, A.-M.; Boulton, K.A.; Hickie, I.B.; Whitehouse, A.J.O.; Galletly, C.; Alvares, G.A.; Fujiyama, H.; Heussler, H.; Craig, J.M.; Kirkovski, M.; Mills, N.T.; Rinehart, N.J.; Donaldson, P.H.; et al.
2021Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: a national cohort studyWurzel, D.; McMinn, A.; Hoq, M.; Blyth, C.C.; Burgner, D.; Tosif, S.; Buttery, J.; Carr, J.; Clark, J.E.; Cheng, A.C.; Dinsmore, N.; Francis, J.R.; Kynaston, A.; Lucas, R.; Marshall, H.; McMullan, B.; Singh-Grewal, D.; Wood, N.; Macartney, K.; Britton, P.N.; et al.
2021Improve in-depth immunological risk assessment to optimize genetic-compatibility and clinical outcomes in child and adolescent recipients of parental donor kidney transplants: protocol for the INCEPTION studyLim, W.H.; Adams, B.; Alexander, S.; Bouts, A.H.M.; Claas, F.; Collins, M.; Cornelissen, E.; Dunckley, H.; de Jong, H.; D’Orsogna, L.; Francis, A.; Heidt, S.; Herman, J.; Holdsworth, R.; Kausman, J.; Khalid, R.; Kim, J.J.; Kim, S.; Knops, N.; Kosmoliaptsis, V.; et al.