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Results 21-30 of 49 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
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.
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
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.
2011A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaYokoyama, S.; Woods, S.; Boyle, G.; Aoude, L.; MacGregor, S.; Zismann, V.; Gartside, M.; Cust, A.; Haq, R.; Harland, M.; Taylor, J.; Duffy, D.; Holohan, K.; Dutton-Regester, K.; Palmer, J.; Bonazzi, V.; Stark, M.; Symmons, J.; Law, M.; Schmidt, C.; et al.
2022Suboptimal glycemic control in adolescents and young adults with type 1 diabetes from 2011 to 2020 across Australia and New Zealand: Data from the Australasian Diabetes Data Network registryJames, S.; Perry, L.; Lowe, J.; Harris, M.; Craig, M.E.; Anderson, K.; Andrikopoulos, S.; Ambler, G.; Barrett, H.; Batch, J.; Bergman, P.; Cameron, F.; Colman, P.; Conwell, L.; Cotterill, A.; Cooper, C.; Couper, J.; Davis, E.; de Bock, M.; Donaghue, K.; et al.
2015Serum levels of human MIC-1/GDF15 vary in a diurnal pattern, do not display a profile suggestive of a satiety factor and are related to BMITsai, V.; Macia, L.; Feinle-Bisset, C.; Manandhar, R.; Astrup, A.; Raben, A.; Lorenzen, J.; Schmidt, P.; Wiklund, F.; Pedersen, N.; Campbell, L.; Kriketos, A.; Xu, A.; Zhou, P.; Jia, W.; Curmi, P.; Angstmann, C.; Lee-Ng, K.; Zhang, H.; Marquis, C.; et al.; Young, M.
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.
2011A genome-wide significant linkage for severe depression on chromosome 3: the depression network studyBreen, G.; Webb, B.; Butler, A.; van den Oord, E.; Tozzi, F.; Craddock, N.; Gill, M.; Korszun, A.; Maier, W.; Middleton, L.; Mors, O.; Owen, M.; Cohen-Woods, S.; Perry, J.; Galwey, N.; Upmanyu, R.; Craig, I.; Lewis, C.; Ng, M.; Brewster, S.; et al.