| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess |  | 2019 | Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients | Tenorio, Jair; Alarcón, Pablo; Arias, Pedro; Dapía, Irene; García-Miñaur, Sixto; Palomares, María; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio CSIC; Martínez Monseny, Antonio; López Grondona, Fermina; Botet, Javier CSIC; Serrano, Mercedes; Solís, Mario; Santos-Simarro, Fernando; Álvarez, Sara; Teixidó-Tura, Gisela; Fernández Jaén, Alberto; Gordo, Gema; Bardón Rivera, María Belén; Nevado, Julian; Hernández, Alicia; Cigudosa, Juan C.; Ruiz-Pérez, Victor L. CSIC ORCID; Tizzano, Eduardo F.; Lapunzina, Pablo | artículo |
| closedAccess | | feb-2009 | Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene | Alías, Laura; Bernal, Sara; Fuentes Prior, Pablo; Barceló, María Jesús; Also, Eva; Martínez-Hernández, Rebeca; Rodríguez-Álvarez, Francisco J.; Martín, Yolanda; Aller, Elena; Grau, Elena; Peciña, Ana CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Galán, Enrique; Rosa, Alberto L.; Fernández-Burriel, Miguel; Borrego, Salud CSIC ORCID; Millán, José M.; Hernández-Chico, Concepción; Baiget, Montserrat; Tizzano, Eduardo F. | artículo |
| closedAccess |  | 15-jun-2019 | Recessive mutations in muscle-specific isoforms of Fxr1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | comunicación de congreso |
| openAccess |  | 2019 | Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy | Estañ, María Cristina CSIC; Fernández-Núñez, Elisa CSIC; Zaki, Maha S.; Esteban Rodriguez, Isabel; Donkervoort, Sandra; Hawkins, Cynthia; Caparrós-Martín, José A. CSIC; Saade, Dimah; Hu, Ying; Bolduc, Véronique; Ru-Yui Chao, Katherine; Nevado, Julian; Lamuedra, Ana; Largo, Raquel; Herrero-Beaumont, Gabriel; Regadera, Javier; Hernández-Chico, Concepción; Tizzano, Eduardo F.; Martinez-Glez, Víctor; Carvajal, Jaime J. CSIC ORCID; Zong, Ruiting; Nelson, David L.; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Issa, Mahmoud; Bönnemann, Carsten G.; Lapunzina, Pablo; Yoon, Grace; Ruiz-Pérez, Victor L. CSIC ORCID | artículo |
