Examinant per Autoria "Bosio, Mattia"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes(Nature Publishing Group, 2017) Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Allele balance bias identifies systematic genotyping errors and false disease associations(Wiley, 2019) Muyas Remolar, Francesc, 1992-; Bosio, Mattia; Puig, Anna; Sušak, Hana, 1985-; Domènech Salgado, Laura, 1989-; Escaramís, Geòrgia; Zapata Ortiz, Luis, 1985-; Demidov, German, 1990-; Estivill, Xavier, 1955-; Rabionet Janssen, Raquel; Ossowski, Stephan
Ítem Accés Obert eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics(Wiley, 2019) Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas Remolar, Francesc, 1992-; Rabionet Janssen, Raquel; Bezdan, Daniela; Domènech Salgado, Laura, 1989-; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier, 1955-; Ossowski, Stephan
Ítem Accés Obert Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation(Public Library of Science (PLoS), 2021) Sušak, Hana, 1985-; Serra Saurina, Laura; Demidov, German, 1990-; Rabionet Janssen, Raquel; Domènech Salgado, Laura, 1989-; Bosio, Mattia; Muyas Remolar, Francesc, 1992-; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Ossowski, Stephan
Ítem Accés Obert LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy(Frontiers, 2018) Soler-Palacín, Pere; Garcia Prat, Marina; Martín-Nalda, Andrea; Franco-Jarava, Clara; Rivière, Jacques G.; Plaja, Alberto; Bezdan, Daniela; Bosio, Mattia; Martínez-Gallo, Mónica; Ossowski, Stephan; Colobran, Roger
Ítem Accés Obert Pan-cancer analysis of whole genomes(Nature Research, 2020) ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; Demidov, German, 1990-; Drechsel, Oliver; Ossowski, Stephan; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Bosio, Mattia; Holik, Aliaksei Z.; Sušak, Hana, 1985-; Rabionet Janssen, Raquel; Stobbe, Miranda D.; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Gut, Ivo Glynne; Beltran, Sergi; Gut, Marta; Trotta, Jean-Remi; Whalley, Justin P.; Heath, Simon; Prasad, Aparna; Heredia Genestar, José María, 1985-; Sabarinathan, Radhakrishnan; Pich Roselló, Oriol, 1992-; Gonzalez-Perez, Abel; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Mularoni, Loris; Deu-Pons, Jordi; Muiños, Ferran; Muyas Remolar, Francesc, 1992-
Ítem Accés Obert Sex differences in oncogenic mutational processes(Nature Research, 2020) Li, Constance H.; Stobbe, Miranda D.; Déu Pons, Jordi; Gonzalez-Perez, Abel; Muiños, Ferran; Mularoni, Loris; Pich Roselló, Oriol, 1992-; Rubio Pérez, Carlota, 1990-; Sabarinathan, Radhakrishnan; Tamborero Noguera, David; Heredia Genestar, José María, 1985-; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Bosio, Mattia; Demidov, German, 1990-; Drechsel, Oliver; Escaramís, Geòrgia; Estivill, Xavier, 1955-; Holik, Aliaksei Z.; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Rabionet Janssen, Raquel; Sušak, Hana, 1985-; PCAWG Consortium
Ítem Desconegut The landscape of expression and alternative splicing variation across human traits(Elsevier, 2022) García Pérez, Raquel, 1989-; Ramirez, Jose Miguel; Ripoll Cladellas, Aida; Chazarra-Gil, Ruben; Oliveros, Winona; Soldatkina, Oleksandra; Bosio, Mattia; Rognon, Paul Joris; Capella Gutiérrez, Salvador Jesús, 1985-; Calvo, Miquel (Calvo Llorca); Reverter Comes, Ferran; Guigó Serra, Roderic; Aguet, François; Ferreira, Pedro G.; Ardlie, Kristin G.; Melé Messeguer, Marta, 1982-
Ítem Desconegut Tracking of antibiotic resistance transfer and rapid plasmid evolution in a hospital setting by Nanopore sequencing(American Society for Microbiology, 2020) Peter, Silke; Bosio, Mattia; Gross, Caspar; Bezdan, Daniela; Gutiérrez, Javier; Oberhettinger, Philipp; Liese, Jan; Vogel, Wichard; Dörfel, Daniela; Berger, Lennard; Marschal, Matthias; Willmann, Matthias; Gut, Ivo Glynne; Gut, Marta; Autenrieth, Ingo B.; Ossowski, Stephan