Examinant per Autoria "Rabionet, Raquel"
Resultats per pàgina
Opcions d'ordenació
Ítem Accés Obert A decade of structural variants: description, history and methods to detect structural variation(Oxford University Press, 2015) Escaramís, Geòrgia; Docampo, Elisa; Rabionet, Raquel
Ítem Accés Obert A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis(BioMed Central, 2015) Aróstegui Gorospe, Juan Ignacio; Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murias, Sara; Alcobendas, Rosa; González-Roca, Eva; Dreschsel, Oliver; Ruíz Ortiz, Estíbaliz; Puig, Anna; Comas, David, 1969-; Ossowski, Stephan; Yagüe, Jordi L.; Estivill, Xavier, 1955-; Merino, Rosa
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, Raquel; Ossowski, Stephan
Ítem Accés Obert Biallelic loss-of-function LACC1/FAMIN mutations presenting as rheumatoid factor-negative polyarticular juvenile idiopathic arthritis(Nature Research, 2019) Rabionet, Raquel; Remesal, Agustín; Mensa Vilaró, Anna; Murías, Sara; Alcobendas, Rosa; González-Roca, Eva; Ruíz Ortiz, Estíbaliz; Antón, Jordi; Iglesias, Estibaliz; Modesto, Consuelo; Comas, David, 1969-; Puig, Anna; Drechsel, Oliver; Ossowski, Stephan; Yagüe, Jordi L.; Merino, Rosa; Estivill, Xavier, 1955-; Aróstegui Gorospe, Juan Ignacio
Ítem Accés Obert Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder(Nature Research, 2022) Domènech Salgado, Laura, 1989-; Willis, Jesse R.; Alemany-Navarro, María; Morell, Marta; Real, Eva; Escaramís, Geòrgia; Bertolín, Sara; Sánchez Chinchilla, Daniel; Balcells, Susana; Segalàs, Cinto; Estivill, Xavier, 1955-; Menchón, José M.; Gabaldón Estevan, Juan Antonio, 1973-; Alonso, Pino; Rabionet, Raquel
Ítem Accés Obert Cluster analysis of clinical data identifies fibromyalgia subgroups(Public Library of Science (PLoS), 2013) Docampo, Elisa; Collado, Antonio; Escaramís, Geòrgia; Carbonell, Jordi; Rivera, Javier; Vidal, Javier; Alegre, José; Rabionet, Raquel; Estivill, Xavier, 1955-
Ítem Accés Obert A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein(BioMed Central, 2013) Aigner, Johanna, 1981-; Villatoro, Sergi; Rabionet, Raquel; Roquer, Jaume; Jiménez Conde, Jordi; Martí, Eulàlia; Estivill, Xavier, 1955-
Ítem Accés Obert Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach(Nature Research, 2019) Alemany-Navarro, María; Costas, Javier; Real, Eva; Segalàs, Cinto; Bertolín, Sara; Domènech Salgado, Laura, 1989-; Rabionet, Raquel; Carracedo, Ángel; Menchón, José M.; Alonso, Pino
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, 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, Raquel; Domènech Salgado, Laura, 1989-; Bosio, Mattia; Muyas Remolar, Francesc, 1992-; Estivill, Xavier, 1955-; Escaramís, Geòrgia; Ossowski, Stephan
Ítem Accés Obert Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus(Future Medicine, 2019) Steyn, Angela; Crowther, Nigel J.; Norris, Shane A.; Rabionet, Raquel; Estivill, Xavier, 1955-; Ramsay, Michèle
Ítem Accés Obert Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approach(Elsevier, 2020) Alemany-Navarro, María; Cruz, Raquel; Real, Eva; Segalàs, Cinto; Bertolín, Sara; Baenas, Isabel; Domènech Salgado, Laura, 1989-; Rabionet, Raquel; Carracedo, Ángel; Menchón, José M.; Alonso, Pino
Ítem Accés Obert Functional analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures(MDPI, 2021) Ugartondo, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero Crespo, Diana; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment(MDPI, 2022) Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc; Martínez-Gil, Núria; Ovejero Crespo, Diana; Castañeda, Santos; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Balcells, Susana; Rabionet, Raquel
Ítem Accés Obert Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci(Wiley, 2022) Martínez-Gil, Núria; Ovejero Crespo, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana
Ítem Accés Obert High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome(Wiley, 2023) Blanco Ares, Gonzalo, 1989-; López-Aventín, Daniel; Pujol Vallverdú, Ramon Maria; Gómez-Llonín, Andrea; Puiggros Metje, Anna Maria; López-Sánchez, Manuela; Estrach, Teresa; García-Muret, Mª Pilar; López Lerma, Ingrid; Servitje, Octavio; Bellosillo Paricio, Beatriz; Muro, Manuel; Espinet Solà, Blanca; Rabionet, Raquel; Gallardo Hernández, Fernando
Ítem Accés Obert Identification of gene mutations and fusion genes in patients with Sézary syndrome.(Elsevier, 2016) Prasad, Aparna; Rabionet, Raquel; Espinet Solà, Blanca; Zapata Ortiz, Luis, 1985-; Puiggros Metje, Anna Maria; Melero Vilella, Maria Carme; Puig, Anna; Sarria-Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach, Teresa; Servitje, Octavio; Lopez-Lerma, Ingrid; Gallardo Hernández, Fernando; Pujol Vallverdú, Ramon Maria; Estivill, Xavier, 1955-
Ítem Accés Obert On the association between Chiari malformation type 1, bone mineral density and bone related genes(Elsevier, 2022) Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián; Patiño, Juan David; Cozar, Mónica; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana
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, 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, Oriol; Gonzalez-Perez, Abel; Rubio Pérez, Carlota, 1990-; Tamborero Noguera, David; Mularoni, Loris; Deu-Pons, Jordi; Muiños, Ferran; Muyas Remolar, Francesc, 1992-
Ítem Accés Obert PeSV-Fisher: identification of somatic and non-somatic structural variants using nextgeneration sequencing data(Public Library of Science (PLoS), 2013) Escaramís, Geòrgia; Tornador Antolin, Cristian, 1979-; Bassaganyas Bars, Laia, 1985-; Rabionet, Raquel; Tubio, José M. C.; Martínez Fundichely, Alexander, 1978-; Cáceres Aguilar, Mario; Gut, Marta; Ossowski, Stephan; Estivill, Xavier, 1955-