MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study von Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodríguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-González, AM, Cuscó, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galán, E, Gener, B, Gilissen, C, Granneman, SM, Hoyer, J, Yntema, HG, Kets, CM, Koolen, DA, Marcelis, CL, Medeira, A, Micale, L, Mohammed, S, de Munnik, SA, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, HG, Schoumans, J, Schuurs-Hoeijmakers, JHM, Silengo, MC, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, RC, Perez-Jurado, L, Dupont, J, de Vries, BBA, Brunner, HG, Veltman, JA, Merla, G, Antonarakis, SE, Hoischen, A

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A cytogenetic study in a large population of intellectually disabled Indonesians von Mundhofir, Farmaditya E P, Winarni, Tri Indah, van Bon, Bregje W, Aminah, Siti, Nillesen, Willy M, Merkx, Gerard, Smeets, Dominique, Hamel, Ben C J, Faradz, Sultana M H, Yntema, Helger G

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Speech and language deficits are central to SETBP1 haploinsufficiency disorder von Morgan, A, Braden, R, Wong, MMK, Colin, E, Amor, D, Liégeois, F, Srivastava, S, Vogel, A, Bizaoui, V, Ranguin, K, Fisher, SE, Van Bon, BW

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