Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | feb-1997 | A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21 | Martínez Mir, Amalia CSIC ORCID; Bayés, Mónica; Vilageliu, L.; Grinberg, Daniel; Ayuso, Carmen; Río, Teresa del; García-Sandoval, Blanca; Bussaglia, Elena; Baiget, Montserrat; González-Duarte, Roser; Balcells, Susana | artículo |
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 | | 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 |
closedAccess | | oct-2002 | Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa | Paloma, Eva; Martínez Mir, Amalia CSIC ORCID; García-Sandoval, Blanca; Ayuso, Carmen; Vilageliu, L.; González-Duarte, Roser; Balcells, Susana | artículo |