| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 10-may-2021 | Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications | Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Pozo-Valero, Marta del; Almoguera, Berta; Blanco-Kelly, Fiona; Carreño, Ester; Jiménez-Rolando, Belén; López-Rodríguez, Rosario; Lorda-Sánchez, Isabel; Martín Mérida, Inmaculada; Pérez de Ayala, Lucía; Riveiro-Álvarez, Rosa; Rodríguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, María J.; García-Sandoval, Blanca; Mínguez, Pablo; Ávila-Fernández, Almudena; Cortón, Marta; Ayuso, Carmen | corrigenda |
| openAccess |  | 8-ene-2021 | CSVS, a crowdsourcing database of the Spanish population genetic variability | Peña-Chilet, María CSIC ORCID; Roldán, Gema; Pérez-Florido, Javier CSIC; Ortuño, Francisco M. CSIC; Carmona, Rosario CSIC ORCID; Aquino, Virginia; López-López, Daniel CSIC ORCID; Loucera, Carlos CSIC ORCID; Fernández-Rueda, José L.; Gallego, Asunción; García-García, Francisco; González-Neira, Anna; Pita, Guillermo; Núñez-Torres, Rocío; Santoyo-López, Javier; Ayuso, Carmen; Mínguez, Pablo; Ávila-Fernández, Almudena; Cortón, Marta; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Gallego-Martinez, Álvaro; López-Escamez, José A.; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Amigo, Jorge; Salgado-Garrido, Josefa; Pasalodos-Sánchez, Sara; Morte, Beatriz CSIC ORCID; Spanish Exome Crowdsourcing Consortium; Carracedo, Ángel; Alonso, Ángel; Dopazo, Joaquín CSIC ORCID | artículo |
| openAccess |  | 18-mar-2020 | Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment | García-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa CSIC ORCID; Fuster-Garcia, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José CSIC ORCID CVN; Vázquez, Selma; Beltrán, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Ávila-Fernández, Almudena; Cortón, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M. | artículo |
| openAccess |  | 15-ene-2021 | Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications | Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F.; Pozo-Valero, Marta del; Almoguera, Berta; Blanco-Kelly, Fiona; Carreño, Ester; Jiménez-Rolando, Belén; López-Rodríguez, Rosario; Lorda-Sánchez, Isabel; Martín Mérida, Inmaculada; Pérez de Ayala, Lucía; Riveiro-Álvarez, Rosa; Rodríguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, María J.; García-Sandoval, Blanca; Mínguez, Pablo; Ávila-Fernández, Almudena; Cortón, Marta; Ayuso, Carmen | artículo |
| openAccess |  | 2013 | Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients | Kamenarova, Kunka; Cortón, Marta; García-Sandoval, Blanca; Fernández-San José, Patricia; Panchev, Valentín; Ávila-Fernández, Almudena; López-Molina, María Isabel; Chakarova, Christina; Ayuso, Carmen; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
