| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 4-mar-2022 | A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies | González del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 8-dic-2020 | A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification | Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 21-jul-2023 | Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 21-jul-2023 | Image1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
| closedAccess |  | sep-2022 | Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient | Soto-Sierra, Marina; Morillo-Sánchez, María José; Martín-Sánchez, Marta CSIC ORCID; Ramos-Jiménez, Manuel; López-Domínguez, Mireia; Ponte-Zuñiga, Beatriz; Antiñolo, Guillermo CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique | artículo |
| openAccess |  | 6-sep-2018 | Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing | González del Pozo, María CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Chimenea, Ángel CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess | | 21-jul-2023 | Table1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.XLSX | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
| openAccess |  | 21-jul-2023 | Table2_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
| openAccess |  | 21-jul-2023 | Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdf | Fernández-Suárez, Elena CSIC ORCID; González del Pozo, María CSIC ORCID; García-Núñez, Alejandro; Méndez-Vidal, Cristina CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | dataset |
| openAccess |  | 12-feb-2020 | Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants | González del Pozo, María CSIC ORCID; Fernández-Suárez, Elena CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Bravo-Gil, Nereida CSIC; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
| openAccess |  | 3-feb-2017 | Unravelling the genetic basis of simplex Retinitis Pigmentosa cases | Bravo-Gil, Nereida CSIC; González del Pozo, María CSIC ORCID; Martín-Sánchez, Marta CSIC ORCID; Méndez-Vidal, Cristina CSIC ORCID; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCID | artículo |
