Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. by Basel-Vanagaite, L, Dallapiccola, B, Ramirez-Solis, R, Segref, A, Thiele, H, Edwards, A, Arends, M, Miró, X, White, J, Désir, J, Abramowicz, M, Dentici, M, Lepri, F, Hofmann, K, Har-Zahav, A, Ryder, E, Karp, N, Estabel, J, Gerdin, A, Podrini, C, Ingham, N, Altmüller, J, Nürnberg, G, Frommolt, P, Abdelhak, S

Mutations in the BAF-complex subunit DPF2 associated with Coffin-Siris syndrome by Vasileiou, G, Vergarajauregui, S, Endele, S, Popp, B, Büttner, C, Ekici, AB, Gerard, M, Bramswig, NC, Albrecht, B, Clayton-Smith, J, Morton, J, Tomkins, S, Low, K, Weber, A, Wenzel, M, Altmüller, J, Li, Y, Wollnik, B, Hoganson, G, Plona, MR, Cho, MT, Thiel, CT, Lüdecke, HJ, Strom, TM, Calpena, E, Wilkie, AOM, Wieczorek, D, Engel, FB, Reis, A