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Results 31-40 of 88 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2019A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiencyVolpi, S.; Cicalese, M.P.; Tuijnenburg, P.; Tool, A.T.J.; Cuadrado, E.; Abu-Halaweh, M.; Ahanchian, H.; Alzyoud, R.; Akdemir, Z.C.; Barzaghi, F.; Blank, A.; Boisson, B.; Bottino, C.; Brigida, I.; Caorsi, R.; Casanova, J.L.; Chiesa, S.; Chinn, I.K.; Dückers, G.; Enders, A.; et al.
2012The Plasmodium falciparum erythrocyte invasion ligand Pfrh4 as a target of functional and protective human antibodies against malariaReiling, L.; Richards, J.; Fowkes, F.; Wilson, D.; Chokejindachai, W.; Barry, A.; Tham, W.; Stubbs, J.; Langer, C.; Donelson, J.; Michon, P.; Tavul, L.; Crabb, B.; Siba, P.; Cowman, A.; Mueller, I.; Beeson, J.; Tetteh, K.K.A.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2013Synthetic versus plaster of Paris casts in the treatment of fractures of the forearm in children: a randomised trial of clinical outcomes and patient satisfactionInglis, M.; McClelland, B.; Sutherland, L.; Cundy, P.
2011Hospitalisation with infection, asthma and allergy in Kawasaki disease patients and their families: Genealogical analysis using linked population dataWebster, R.; Carter, K.; Warrington, N.; Loh, A.; Zaloumis, S.; Kuijpers, T.; Palmer, L.; Burgner, D.; Dubé, M.-P.
2014Outcome of central nervous system relapses in childhood acute lymphoblastic leukaemia - prospective open cohort analyses of the ALLR3 trialMasurekar, A.; Parker, C.; Shanyinde, M.; Moorman, A.; Hancock, J.; Sutton, R.; Ancliff, P.; Morgan, M.; Goulden, N.; Fraser, C.; Hoogerbrugge, P.; Revesz, T.; Darbyshire, P.; Krishnan, S.; Love, S.; Saha, V.; Baer, M.
2016Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersMoey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
2012Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)Johnston, C.; O'Leary, M.; Brown, S.; Currie, B.; Halkidis, L.; Whitaker, R.; Close, B.; Isbister, G.; Nagree, Y.; Ker, F.; Greene, S.; Taylor, M.; Macrokanis, C.; Wilke, G.; Coulson, A.; Barnes, C.; Bonni, R.; Whitake, R.; Halkidis, L.; Isbiste, G.; et al.; de Silva, J.
2010Testicular and paratesticular pathology in children: a 12-year histopathological reviewMarulaiah, M.; Gilhotra, A.; Moore, L.; Boucaut, H.; Goh, D.