KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Fuente: arXiv
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Auteurs principaux: 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
Format: Preprint
Publié: 2025
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