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DerechosPreviewFecha Public.TítuloAutor(es)Tipo
openAccessAMM_Genomics 40(1)142-146 (1997) PMID 9070931.pdf.jpgfeb-1997A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21Martínez 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, Susanaartículo
openAccessAuthor_Correction_retinal_dystrophies .pdf.jpg10-may-2021Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsPerea-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, Carmencorrigenda
openAccessretinal_dystrophies.pdf.jpg15-ene-2021Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsPerea-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, Carmenartículo
openAccessNovel_GUCA1A_Mutations_Kamenarova.pdf.jpg2013Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patientsKamenarova, 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 ORCIDartículo
closedAccessoct-2002Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosaPaloma, Eva; Martínez Mir, Amalia CSIC ORCID; García-Sandoval, Blanca; Ayuso, Carmen; Vilageliu, L.; González-Duarte, Roser; Balcells, Susanaartículo