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Results 51-54 of 54 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2017Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutations, persistence of minimal residual disease and poor prognosisHerold, T.; Schneider, S.; Metzeler, K.; Neumann, M.; Hartmann, L.; Roberts, K.; Konstandin, N.; Greif, P.; Braeundl, K.; Ksienzyk, B.; Huk, N.; Schneider, I.; Zellmeier, E.; Jurinovic, V.; Mansmann, U.; Hiddemann, W.; Mullighan, C.; Bohlander, S.; Spiekermann, K.; Hoelzer, D.; et al.
2013SMAD2, SMAD3 and SMAD4 mutations in colorectal cancerFleming, N.; Jorissen, R.; Mouradov, D.; Christie, M.; Sakthianandeswaren, A.; Palmieri, M.; Day, F.; Li, S.; Tsui, C.; Lipton, L.; Desai, J.; Jones, I.; McLaughlin, S.; Ward, R.; Hawkins, N.; Ruszkiewicz, A.; Moore, J.; Zhu, H.; Mariadason, J.; Burgess, A.; et al.
2018Congenital Titinopathy: Comprehensive characterization and pathogenic insightsOates, E.C.; Jones, K.J.; Donkervoort, S.; Charlton, A.; Brammah, S.; Smith, J.E.; Ware, J.S.; Yau, K.S.; Swanson, L.C.; Whiffin, N.; Peduto, A.J.; Bournazos, A.; Waddell, L.B.; Farrar, M.A.; Sampaio, H.A.; Teoh, H.L.; Lamont, P.J.; Mowat, D.; Fitzsimons, R.B.; Corbett, A.J.; et al.

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