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Results 11-20 of 21 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, 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.
2013Cervical pessaries for prevention of preterm birth in women with a multiple pregnancy (ProTWIN): a multicentre, open-label randomised controlled trialLiem, S.; Schuit, E.; Hegeman, M.; Bais, J.; de Boer, K.; Bloemenkamp, K.; Brons, J.; Duvekot, H.; Nij Bijvanck, B.; Franssen, M.; Gaugler, I.; de Graaf, I.; Oudijk, M.; Papatsonis, D.; Pernet, P.; Porath, M.; Scheepers, L.; Sikkema, M.; Sporken, J.; Visser, H.; et al.
2015Patient controlled analgesia with remifentanil versus epidural analgesia in labour: Randomised multicentre equivalence trialFreeman, L.; Bloemenkamp, K.; Franssen, M.; Papatsonis, D.; Hajenius, P.; Hollmann, M.; Woiski, M.; Porath, M.; Van Den Berg, H.; Van Beek, E.; Borchert, O.; Schuitemaker, N.; Sikkema, J.; Kuipers, A.; Logtenberg, S.; Van Der Salm, P.; Rengerink, K.; Lopriore, E.; Van Den Akker-van Marle, M.; Le Cessie, S.; et al.
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.
2010PHF6 mutations in T-cell acute lymphoblastic leukemiaVan Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
2010Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registryWalsh, M.; Buchanan, D.; Cummings, M.; Pearson, S.; Arnold, S.; Clendenning, M.; Walters, R.; McKeone, D.; Spurdle, A.; Hopper, J.; Jenkins, M.; Phillips, K.; Suthers, G.; George, J.; Goldblatt, J.; Muir, A.; Tucker, K.; Pelzer, E.; Gattas, M.; Woodall, S.; et al.
2010Cardiotocography plus ST analysis of fetal electrocardiogram compared with cardiotocography only for intrapartum monitoring: a randomized controlled trialWesterhuis, M.; Visser, G.; Moons, K.; van Beek, E.; Benders, M.; Bijvoet, S.; van Dessel, H.; Drogtrop, A.; van Geijn, H.; Graziosi, G.; Groenendaal, F.; van Lith, J.; Nijhuis, J.; Oei, S.; Oosterbaan, H.; Porath, M.; Rijnders, R.; Schuitemaker, N.; Sopacua, L.; van der Tweel, I.; et al.
2018Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderFrints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.