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Results 21-30 of 55 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2023Balanced crystalloid solution versus saline in deceased donor kidney transplantation (BEST-Fluids): a pragmatic, double-blind, randomised, controlled trialCollins, M.G.; Fahim, M.A.; Pascoe, E.M.; Hawley, C.M.; Johnson, D.W.; Varghese, J.; Hickey, L.E.; Clayton, P.A.; Dansie, K.B.; McConnochie, R.C.; Vergara, L.A.; Kiriwandeniya, C.; Reidlinger, D.; Mount, P.F.; Weinberg, L.; McArthur, C.J.; Coates, P.T.; Endre, Z.H.; Goodman, D.; Howard, K.; et al.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2022Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemiaKimura, S.; Montefiori, L.; Iacobucci, I.; Zhao, Y.; Gao, Q.; Paietta, E.M.; Haferlach, C.; Laird, A.D.; Mead, P.E.; Gu, Z.; Stock, W.; Litzow, M.R.; Rowe, J.M.; Luger, S.M.; Hunger, S.P.; Ryland, G.; Schmidt, B.M.; Ekert, P.G.; Oshlack, A.; Grimmond, S.; 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.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
2013Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposityCousminer, D.; Berry, D.; Timpson, N.; Ang, W.; Thiering, E.; Byrne, E.; Taal, H.; Huikari, V.; Bradfield, J.; Kerkhof, M.; Groen-Blokhuis, M.; Kreiner-Møller, E.; Marinelli, M.; Holst, C.; Leinonen, J.; Perry, J.; Surakka, I.; Kettunen, J.; Anttila, V.; Kaakinen, M.; et al.
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, E.; Rosenfeld, H.; Kampmann, C.; Johnson, J.; Beck, M.; Giugliani, R.; Guffon, N.; Ketteridge, D.; Miranda, C.; Scarpa, M.; Schwartz, I.; Teles, E.; Wraith, J.; Barrios, P.; Dias da Silva, E.; Kurio, G.; Richardson, M.; Gildengorin, G.; Hopwood, J.; Imperiale, M.; et al.
2020Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerWong, M.; Mayoh, C.; Lau, L.M.S.; Khuong-Quang, D.-A.; Pinese, M.; Kumar, A.; Barahona, P.; Wilkie, E.E.; Sullivan, P.; Bowen-James, R.; Syed, M.; Martincorena, I.; Abascal, F.; Sherstyuk, A.; Bolanos, N.A.; Baber, J.; Priestley, P.; Dolman, M.E.M.; Fleuren, E.D.G.; Gauthier, M.-E.; et al.
2011Association of genetic loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 childrenBarker, A.; Sharp, S.; Timpson, N.; Bouatia-Naji, N.; Warrington, N.; Kanoni, S.; Beilin, L.; Brage, S.; Deloukas, P.; Evans, D.; Grontved, A.; Hassanali, N.; Lawlor, D.; Lecoeur, C.; Loos, R.; Lye, S.; McCarthy, M.; Mori, T.; Coumba Ndiaye, N.; Newnham, J.; et al.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; et al.

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