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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome by Menke, LA, Gardeitchik, T, Hammond, P, Heimdal, KR, Houge, G, Hufnagel, SB, Ji, J, Johansson, S, Kant, SG, Kinning, E, Leon, EL, Newbury-Ecob, R, Paolacci, S, Pfundt, R, Ragge, NK, Rinne, T, Ruivenkamp, C, Saitta, SC, Sun, Y, Tartaglia, M, Terhal, PA, van Essen, AJ, Vigeland, MD, Xiao, B, Hennekam, RC
Published 2018Journal article -
2
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms by Boldt, K, van Reeuwijk, J, Lu, Q, Koutroumpas, K, Nguyen, T-MT, Texier, Y, van Beersum, SEC, Horn, N, Willer, JR, Mans, DA, Dougherty, G, Lamers, IJC, Coene, KLM, Arts, HH, Betts, MJ, Beyer, T, Bolat, E, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Iaconis, D, Jenkins, D, Klose, F, Knapp, B, Latour, B, Letteboer, SJF, Marcelis, CL, Mitic, D, Morleo, M, Oud, MM, Riemersma, M, Rix, S, Terhal, PA, Toedt, G, van Dam, TJP, de Vrieze, E, Wissinger, Y, Wu, KM, Apic, G, Beales, PL, Blacque, OE, Gibson, TJ, Huynen, MA, Katsanis, N, Kremer, H, Omran, H, van Wijk, E, Wolfrum, U, Kepes, F, Davis, EE, Franco, B, Giles, RH, Ueffing, M, Russell, RB, Roepman, R, Al-Turki, S, Anderson, C, Antony, D, Barroso, I, Bentham, J, Bhattacharya, S, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Danecek, P, Durbin, R, Fitzpatrick, D, Floyd, J, Foley, A, Franklin, C, Futema, M, Humphries, SE, Hurles, M, Joyce, C, McCarthy, S, Mitchison, HM, Muddyman, D, Muntoni, F, O'Rahilly, S, Onoufriadis, A, Payne, F, Plagnol, V, Raymond, L, Savage, DB, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, R, Serra, E, Stalker, J, van Kogelenberg, M, Vijayarangakannan, P, Walter, K, Whittall, R, Williamson, K
Published 2016Journal article