1. MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
- Author
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Makrythanasis, P, primary, van Bon, BW, additional, Steehouwer, M, additional, Rodríguez-Santiago, B, additional, Simpson, M, additional, Dias, P, additional, Anderlid, BM, additional, Arts, P, additional, Bhat, M, additional, Augello, B, additional, Biamino, E, additional, Bongers, EMHF, additional, del Campo, M, additional, Cordeiro, I, additional, Cueto-González, AM, additional, Cuscó, I, additional, Deshpande, C, additional, Frysira, E, additional, Izatt, L, additional, Flores, R, additional, Galán, E, additional, Gener, B, additional, Gilissen, C, additional, Granneman, SM, additional, Hoyer, J, additional, Yntema, HG, additional, Kets, CM, additional, Koolen, DA, additional, Marcelis, CL, additional, Medeira, A, additional, Micale, L, additional, Mohammed, S, additional, de Munnik, SA, additional, Nordgren, A, additional, Psoni, S, additional, Reardon, W, additional, Revencu, N, additional, Roscioli, T, additional, Ruiterkamp-Versteeg, M, additional, Santos, HG, additional, Schoumans, J, additional, Schuurs-Hoeijmakers, JHM, additional, Silengo, MC, additional, Toledo, L, additional, Vendrell, T, additional, van der Burgt, I, additional, van Lier, B, additional, Zweier, C, additional, Reymond, A, additional, Trembath, RC, additional, Perez-Jurado, L, additional, Dupont, J, additional, de Vries, BBA, additional, Brunner, HG, additional, Veltman, JA, additional, Merla, G, additional, Antonarakis, SE, additional, and Hoischen, A, additional
- Published
- 2013
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