Examinant per Autoria "Ossowski, Stephan"
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 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 A global metagenomic map of urban microbiomes and antimicrobial resistance(Elsevier, 2021) Danko, David; Hecht, Jochen; Mutai, Beth; Ossowski, Stephan; International MetaSUB Consortium
Ítem Accés Obert A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx(Public Library of Science (PLoS), 2015) Bahamonde Santos, María Isabel, 1972-; Serra Pascual, Selma A., 1981-; Drechsel, Oliver; Rahman, Rubayte; Marcé-Grau, Anna; Prieto, Marta; Ossowski, Stephan; Macaya, Alfons; Fernández-Fernández, José Manuel, 1967-
Ítem Desconegut 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 Desconegut Analysis of a long-term outbreak of XDR Pseudomonas aeruginosa: a molecular epidemiological study(Oxford University Press, 2015) Willmann, Matthias; Bezdan, Daniela; Zapata Ortiz, Luis, 1985-; Sušak, Hana, 1985-; Vogel, Wichard; Schröppel, Klaus; Liese, Jan; Weidenmaier, Christopher; Autenrieth, Ingo B.; Ossowski, Stephan; Peter, Silke
Ítem Desconegut 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 Desconegut Chromatin-wide profiling of DYRK1A reveals a role as a gene-specific RNA polymerase II CTD kinase(Elsevier, 2015) Vona, Chiara Di; Bezdan, Daniela; Islam, Abul, 1978-; Salichs Fradera, Eulàlia; López Bigas, Núria; Ossowski, Stephan; Luna, Susana de la
Ítem Desconegut Chromosome-level assembly of Arabidopsis thaliana Ler reveals the extent of translocation and inversion polymorphisms(National Academy of Sciences, 2016) Zapata Ortiz, Luis, 1985-; Ding, Jia; Willing, Eva-Maria; Hartwig, Benjamin; Bezdan, Daniela; Jiao, Wen-Biao; Patel, Vipul; Velikkakam, James Geo; Koornneef, Maarten; Ossowski, Stephan; Schneeberger, Korbinian
Ítem Desconegut Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing(Nature Research, 2020) Cortés-Ciriano, Isidro; Lee, Jake June-Koo; Xi, Ruibin; Jain, Dhawal; Jung, Youngsook L.; Yang, Lixing; Gordenin, Dmitry; Klimczak, Leszek J.; Zhang, Cheng-Zhong; Pellman, David S.; PCAWG Structural Variation Working Group; Park, Peter J.; PCAWG Consortium; Ossowski, Stephan; Pearson, John V.
Ítem Només Metadades Computational analysis of epigenomic variability and its effect on regulatory activity(Universitat Pompeu Fabra, 2018-06-08T15:36:06Z) Jhanwar, Shalu; Ossowski, Stephan; Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
Ítem Accés Obert Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing(Wiley, 2014) Trujillano Lidón, Daniel, 1987-; Bullich, Gemma; Ossowski, Stephan; Ballarín, José; Torra, Roser; Estivill, Xavier, 1955-; Ars, Elisabet
Ítem Accés Obert Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer(Nature Research, 2020) Akdemir, Kadir C.; Le, Victoria T.; Chandran, Sahaana; Li, Yilong; Verhaak, Roel G.; Beroukhim, Rameen; Campbell, Peter J.; Chin, Linda; PCAWG Structural Variation Working Group; Dixon, Jesse R.; Futreal, P. Andrew; PCAWG Consortium; 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, 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 Environmental enrichment induces epigenomic and genome organization changes relevant for cognition(Frontiers, 2021) Espeso Gil, Sergio, 1985-; Holik, Aliaksei Z.; Bonnin, Sarah; Jhanwar, Shalu, 1986-; Chandrasekaran, Sandhya; Pique Regi, Roger; Albaigès-Ràfols, Júlia; Maher, Michael; Permanyer, Jon; Irimia Martínez, Manuel; Friedländer, Marc R.; Pons Espinal, Meritxell, 1986-; Akbarian, Schahram; Dierssen, Mara; Maass, Philipp G.; Hor, Charlotte N.; Ossowski, Stephan
Ítem Accés Obert Genomic characterisation of clinical and environmental Pseudomonas putida group strains and determination of their role in the transfer of antimicrobial resistance genes to Pseudomonas aeruginosa(BioMed Central, 2017) Peter, Silke; Oberhettinger, Philipp; Schuele, Leonard; Dinkelacker, Ariane; Vogel, Wichard; Dörfel, Daniela; Bezdan, Daniela; Ossowski, Stephan; Marschal, Matthias; Liese, Jan; Willmann, Matthias
Ítem Accés Obert Genomic footprints of activated telomere maintenance mechanisms in cancer(Nature Research, 2020) Sieverling, Lina; Hong, Chen; Koser, Sandra D.; Ginsbach, Philip; Kleinheinz, Kortine; Hutter, Barbara; Braun, Delia M.; Cortés-Ciriano, Isidro; Xi, Ruibin; Kabbe, Rolf; Park, Peter J.; Eils, Roland; Schlesner, Matthias; PCAWG Structural Variation Working Group; Brors, Benedikt; Rippe, Karsten; Jones, David T. W.; Feuerbach, Lars; PCAWG Consortium; Ossowski, Stephan; Estivill, Xavier, 1955-
Ítem Accés Obert High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations(Nature Research, 2020) Zhang, Yikun; Chen, Fengju; Fonseca, Nuno; He, Yao; Fujita, Masashi; Nakagawa, Hidewaki; Zhang, Zemin; Brazma, Alvis; PCAWG Transcriptome Working Group; PCAWG Structural Variation Working Group; Creighton, Chad J.; PCAWG Consortium; Ossowski, Stephan
Ítem Només Metadades Highly accurate variant detection for identification of tumor mutations and mosaic variants(Universitat Pompeu Fabra, 2020-01-21T16:48:56Z) Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Guigó Serra, Roderic; Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
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