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Navegación por Autor Derdak, Sophia
Mostrando resultados 1 a 4 de 4
| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| 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 |  | 31-mar-2016 | Identification of genetic variation in the swine toll-like receptors and development of a porcine TLR genotyping array | Clop, Alex CSIC ORCID; Huisman, Abe; As, Pieter van; Sharaf, Abdoallah; Derdak, Sophia; Sánchez, Armand CSIC ORCID | artículo |
| openAccess |  | 2016 | Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes | Clop, Alex CSIC ORCID; Sharaf, Abdoallah; Castelló, Anna CSIC ORCID; Ramos-Onsins, Sebastian E. CSIC ORCID; Cirera, Susanna; Mercadé, Anna CSIC ORCID; Derdak, Sophia; Beltrán, Sergi; Huisman, Abe; Fredholm, Merete; As, Pieter van; Sánchez, Armand CSIC ORCID | artículo |
| openAccess |  | 25-sep-2017 | The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome | Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura CSIC; Trotta, Jean-Rémi; Derdak, Sophia; O'Callaghan, María del Mar; García-Cazorla, Ángeles; Pineda, Mercé; Armstrong, Judith | artículo |
