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    KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Autoría: Cif, L, Demailly, D, Lin, JP, Barwick, KE, Sa, M, Abela, L, Malhotra, S, Chong, WK, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, MW, Applegate, CD, Isfahani, S Attaripour, Baleine, J, Balint, B, Bassetti, JA, Baple, EL, Bhatia, KP, Blanchet, C, Burglen, L, Cambonie, G, Seng, EC, Bastaraud, SC, Cyprien, F, Coubes, C, d'Hardemare, V, Study, Deciphering Developmental Disorders, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, ME, Farrelly, E, Fitzpatrick, DR, Fearon, C, Fieg, EL, Fogel, BL, Forman, EB, Fox, RG, Consortium, Genomics England Research, Gahl, WA, Galosi, S, Gonzalez, V, Graves, TD, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, SJ, Hamosh, A, Hully, M, Jansen, S, Jeong, SY, Krier, JB, Krystal, S, Kumar, KR, Laurencin, C, Lee, H, Lesca, G, François, LL, Lynch, T, Mahant, N, Martinez-Agosto, JA, Milesi, C, Mills, KA, Mondain, M, Morales-Briceno, H, BioResource, NIHR, Ostergaard, JR, Pal, S, Pallais, JC, Pavillard, F, Perrigault, PF, Petersen, AK, Polo, G, Poulen, G, Rinne, T, Roujeau, T, Rogers, C, Roubertie, A, Sahagian, M, Schaefer, E, Selim, L, Selway, R, Sharma, N, Signer, R, Soldatos, AG, Stevenson, DA, Stewart, F, Tchan, M, Network, Undiagnosed Diseases, Verma, IC, de Vries, BBA, Wilson, JL, Wong, DA, Zaitoun, R, Zhen, D, Znaczko, A, Dale, RC, de Gusmão, CM, Friedman, J, Fung, VSC, King, MD, Mohammad, SS, Rohena, L, Waugh, JL, Toro, C, Raymond, FL, Topf, M, Coubes, P, Gorman, KM, Kurian, MA

    Publié 2025
    Fuente: arXiv
    Tipo de material: Preprint
    Acceso al recurso