Revista | Título | Autores | | | GENE | De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lub ... | Neira VA, Romero-Espinoza P, Rojas-Martinez A, Ortiz-Lopez R, Cordova-Fletes C, Plaja A, Barros-Nune ... |  | | CLINICAL GENETICS | MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. | Makrythanasis P, van Bon BW, Steehouwer M, Rodriguez-Santiago B, Simpson M, Dias P, Anderlid BM, Art ... | | | NATURE GENETICS | Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. | Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McCle ... | | |
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