Mostrando resultados 49 a 57 de 57
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |
| closedAccess |  | 2011 | Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male | Pieras, Juan Ignacio; Muñoz-Cabello, Beatriz; Borrego, Salud CSIC ORCID; Marcos Luque, Irene CSIC; Perona, Javier S. CSIC ORCID ; Madruga, Marcos CSIC; 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 |  | ene-2016 | The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients | Gayarre, Javier CSIC ORCID; Borrego, Salud CSIC ORCID; Paz-Ares, Luis CSIC ORCID; Palacios Calvo, José CSIC ORCID; García, M. José | artículo |
| 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 |
| closedAccess |  | ene-2020 | What is new about the genetic background of Hirschsprung disease? | Luzón-Toro, Berta CSIC; Villalba-Benito, Leticia CSIC; Torroglosa, Ana CSIC ORCID; Fernández, Raquel M. CSIC ORCID; Antiñolo, Guillermo CSIC ORCID; Borrego, Salud CSIC ORCID | artículo de revisión |
