Examinant per Autoria "Derdak, Sophia"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing(Nature Research, 2015) Alioto, Tyler; Derdak, Sophia; Ribeca, Paolo; Castro Giner, Francesc; Beltran, Sergi; Raineri, Emanuele; Dabad, Marc; Heath, Simon; Gut, Marta; Gut, Ivo Glynne
Ítem Accés Obert Clonal dynamics monitoring during clinical evolution in chronic lymphocytic leukaemia(Nature Research, 2019) González-Rincón, Julia; Gómez, Sagrario; Martinez, Nerea; Troulé, Kevin; Perales-Patón, Javier; Derdak, Sophia; Beltran, Sergi; Fernández-Cuevas, Belén; Pérez-Sanz, Nuria; Nova-Gurumeta, Sara; Gut, Ivo Glynne; Al-Shahrour, Fátima; Piris, Miguel A.; García-Marco, J. A.; Sánchez-Beato, Margarita
Ítem Accés Obert Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment(Molecular Vision, 2020) García-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa; Fuster-García, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José; Vázquez, Selma; Beltran, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Cortón, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M.; Ayuso, Carmen
Ítem Accés Obert Extreme genomic erosion after recurrent demographic bottlenecks in the highly endangered Iberian lynx(BioMed Central, 2016) Abascal, Federico; Corvelo, André; Cruz, Fernando; Villanueva Cañas, José Luis, 1984-; Vlasova, Anna; Marcet Houben, Marina; Prieto Barja, Pablo, 1986-; Quilez Oliete, Javier; Frias, Leonor; Ribeca, Paolo; Capella Gutiérrez, Salvador Jesús, 1985-; Câmara Ferreira, Francisco; Lowy Gallego, Ernesto; Cozzuto, Luca; Erb, Ionas; Rodríguez Ales, José Luis; Ruiz Orera, Jorge, 1988-; Reverter Comes, Ferran; Derdak, Sophia; Blanc, Julie; Gut, Marta; Lorente-Galdós, Belén, 1981-; Gut, Ivo Glynne; Guigó Serra, Roderic; Gabaldón Estevan, Juan Antonio, 1973-; Godoy, José A.
Ítem Accés Obert Genetic diversity and population structure of rice varieties cultivated in temperate regions(Springer Open, 2016) Reig-Valiente, Juan L.; Viruel, Juan; Sales, Ester; Marqués, Luis; Terol, Javier; Gut, Marta; Derdak, Sophia; Talón, Manuel; Domingo, Concha
Ítem Accés Obert Genome sequence of the olive tree, Olea europaea(BioMed Central, 2016) Cruz, Fernando; Julca, Irene; Gómez Garrido, Jèssica; Loska, Damian; Marcet Houben, Marina; Cano, Emilio; Galán Sicilia, Beatriz; Frias, Leonor; Ribeca, Paolo; Derdak, Sophia; Gut, Marta; Sánchez Fernández, Manuel; García, Jose Luis; Gut, Ivo Glynne; Vargas Gómez, Pablo; Alioto, Tyler; Gabaldón Estevan, Juan Antonio, 1973-
Ítem Accés Obert High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls(Nature Research, 2019) Thun, Gian Andri; Derdak, Sophia; Castro Giner, Francesc; Apunte Ramos, Katherine; Águeda, Lidia; Gut, Marta; Gut, Ivo Glynne
Ítem Accés Obert Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome(Wiley, 2019) Aguilera, Cinthia; Gabau, Elisabeth; Laurie, Steven, 1973-; Baena, Neus; Derdak, Sophia; Capdevila, Núria; Ramirez, Ariadna; Delgadillo, Veronica; García-Catalan, Maria Jesus; Brun i Gasca, Carme; Guitart, Miriam; Ruiz, Anna
Ítem Accés Obert Identification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genes(BioMed Central, 2016) Clop, Alex; Sharaf, Abdoallah; Castelló, Anna; Ramos-Onsins, Sebastián; Cirera, Susanna; Mercadé, Anna; Derdak, Sophia; Beltran, Sergi; Huisman, Abe; Fredholm, Merete; van As, Pieter; Sánchez, Armand
Ítem Accés Obert New genes involved in Angelman syndrome-like: expanding the genetic spectrum(Public Library of Science (PLoS), 2021) Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafré, Ariadna; Brun i Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Laurie, Steven, 1973-; Derdak, Sophia; Padilla, Natàlia; Cruz, Xavier de la; Capdevila, Núria; Spataro, Nino, 1984-; Baena, Neus; Guitart, Miriam; Ruiz, Anna
Ítem Accés Obert Shared oncogenic pathways implicated in both virus-positive and UV-induced merkel cell carcinomas(Elsevier, 2017) González Vela, María del Carmen; Derdak, Sophia; Beltran, Sergi; Gut, Marta; Gut, Ivo Glynne; Vaqué, José Pedro
Ítem Accés Obert The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome(Nature Publishing Group, 2017) Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura; Trotta, Jean-Remi; Derdak, Sophia; del Mar O'Callaghan, María; García Cazorla, Àngels; Pineda, Mercè; Armstrong, Judith; Rett Working Group
Ítem Accés Obert Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes(Public Library of Science (PLoS), 2017) Castro Sánchez, Sheila; Álvarez Satta, María; Tohamy, Mohamed A.; Beltran, Sergi; Derdak, Sophia; Valverde, Diana