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Results 31-40 of 87 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; 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.
2023Real World Impact of 13vPCV in Preventing Invasive Pneumococcal Pneumonia in Australian Children: A National StudyHomaira, N.; Strachan, R.; Quinn, H.; Beggs, S.; Bhuiyan, M.; Bowen, A.; Fawcett, L.K.; gilbert, L.; Lambert, S.B.; Macartney, K.; Marshall, H.S.; Martin, A.C.; McCallum, G.; McCullagh, A.; McDonald, T.; Selvadurai, H.; McIntyre, P.; Oftadeh, S.; Ranganathan, S.; Saunders, T.; 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.
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.
2012A genome-wide association meta-analysis identifies new childhood obesity lociBradfield, J.; Taal, H.; Timpson, N.; Scherag, A.; Lecoeur, C.; Warrington, N.; Hypponen, E.; Holst, C.; Valcarcel, B.; Thiering, E.; Salem, R.; Schumacher, F.; Cousminer, D.; Sleiman, P.; Jianhua, Z.; Berkowitz, R.; Vimaleswaran, K.; Ivonne, J.; Pennell, C.; Evans, D.; et al.

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