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Results 11-20 of 37 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2018Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysisAlbers, L.; Sobotzki, C.; Kuß, O.; Ajslev, T.; Batista, R.; Bettiol, H.; Brabin, B.; Buka, S.; Cardoso, V.; Clifton, V.; Devereux, G.; Gilman, S.; Grzeskowiak, L.; Heinrich, J.; Hummel, S.; Jacobsen, G.; Jones, G.; Koshy, G.; Morgen, C.; Oken, E.; et al.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
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.
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.
2023A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer.Mayoh, C.; Gifford, A.J.; Terry, R.; Lau, L.M.S.; Wong, M.; Rao, P.; Shai-Hee, T.; Saletta, F.; Khuong-Quang, D.-A.; Qin, V.; Mateos, M.K.; Meyran, D.; Miller, K.E.; Yuksel, A.; Mould, E.V.A.; Bowen-James, R.; Govender, D.; Senapati, A.; Zhukova, N.; Omer, N.; 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.
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.
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.
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.
2010Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.

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