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Browsing by Author Derdak, Sophia

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RightsPreviewIssue DateTitleAuthor(s)Type
openAccessExome_Garcia_PV2020.pdf.jpg18-Mar-2020Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairmentGarcía-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa; Fuster-Garcia, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José CSIC; Vázquez, Selma; Beltrán, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Corton, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M.artículo
openAccessTLR_genotyping_array.pdf.jpg31-Mar-2016Identification of genetic variation in the swine toll-like receptors and development of a porcine TLR genotyping arrayClop, Alex CSIC ORCID; Huisman, Abe; van As, Pieter; Sharaf, Abdoallah; Derdak, Sophia; Sánchez, Armandartículo
openAccessidentificagenes.pdf.jpg2016Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genesClop, Alex CSIC ORCID; Sharaf, Abdoallah; Castelló, Anna CSIC ORCID; Ramos-Onsins, Sebastian E.; Cirera, Susanna; Mercadé, Anna; Derdak, Sophia; Beltrán, Sergi; Huisman, Abe; Fredholm, Merete; As, Pieter van; Sánchez, Armandartículo
openAccesss41598-017-11620-3.pdf.jpg25-Sep-2017The utility of Next Generation Sequencing for molecular diagnostics in Rett syndromeVidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura; Trotta, Jean-Rémi; Derdak, Sophia; O'Callaghan, María del Mar; García-Cazorla, Ángels; Pineda, Mercè; Armstrong, Judithartículo