Kết quả tìm kiếm - Danis, Daniel

CT Evaluated Sarcopenia Signals: Shorter Survival for Small Cell Lung Cancer Patients Bằng PEKAŘOVÁ, Anna, PEKAŘ, Matej, DANIŠ, Daniel, NOVÁKOVÁ, Zuzana

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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report Bằng Varga, Lukas, Danis, Daniel, Skopkova, Martina, Masindova, Ivica, Slobodova, Zuzana, Demesova, Lucia, Profant, Milan, Gasperikova, Daniela

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HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis Bằng Karlebach, Guy, Hansen, Peter, Veiga, Diogo FT, Steinhaus, Robin, Danis, Daniel, Li, Sheng, Anczukow, Olga, Robinson, Peter N

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GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution Bằng Hansen, Peter, Ali, Salaheddine, Blau, Hannah, Danis, Daniel, Hecht, Jochen, Kornak, Uwe, Lupiáñez, Darío G., Mundlos, Stefan, Steinhaus, Robin, Robinson, Peter N.

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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes Bằng Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.

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parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants Bằng Petrini, Alessandro, Mesiti, Marco, Schubach, Max, Frasca, Marco, Danis, Daniel, Re, Matteo, Grossi, Giuliano, Cappelletti, Luca, Castrignanò, Tiziana, Robinson, Peter N, Valentini, Giorgio

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Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease Bằng Jacobsen, Julius O. B., Kelly, Catherine, Cipriani, Valentina, Research Consortium, Genomics England, Mungall, Christopher J., Reese, Justin, Danis, Daniel, Robinson, Peter N., Smedley, Damian

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Interpretable prioritization of splice variants in diagnostic next-generation sequencing Bằng Danis, Daniel, Jacobsen, Julius O.B., Carmody, Leigh C., Gargano, Michael A., McMurry, Julie A., Hegde, Ayushi, Haendel, Melissa A., Valentini, Giorgio, Smedley, Damian, Robinson, Peter N.

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Interpretable prioritization of splice variants in diagnostic next-generation sequencing Bằng Danis, Daniel, Jacobsen, Julius O.B., Carmody, Leigh C., Gargano, Michael A., McMurry, Julie A., Hegde, Ayushi, Haendel, Melissa A., Valentini, Giorgio, Smedley, Damian, Robinson, Peter N.

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data Bằng Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson, Peter N., Jacobsen, Julius O.B., Smedley, Damian

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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing Bằng Danis, Daniel, Jacobsen, Julius O. B., Balachandran, Parithi, Zhu, Qihui, Yilmaz, Feyza, Reese, Justin, Haimel, Matthias, Lyon, Gholson J., Helbig, Ingo, Mungall, Christopher J., Beck, Christine R., Lee, Charles, Smedley, Damian, Robinson, Peter N.

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Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics Bằng Köhler, Sebastian, Øien, N. Christine, Buske, Orion J, Groza, Tudor, Jacobsen, Julius OB, McNamara, Craig, Vasilevsky, Nicole, Carmody, Leigh C, Gourdine, JP, Gargano, Michael, McMurry, Julie, Danis, Daniel, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa, Robinson, Peter N

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Interpretable Clinical Genomics with a Likelihood Ratio Paradigm Bằng Robinson, Peter N., Ravanmehr, Vida, Jacobsen, Julius O.B., Danis, Daniel, Zhang, Xingmin Aaron, Carmody, Leigh C., Gargano, Michael A., Thaxton, Courtney L., Karlebach, Guy, Reese, Justin, Holtgrewe, Manuel, Köhler, Sebastian, McMurry, Julie A., Haendel, Melissa A., Smedley, Damian

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Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery Bằng Zhang, Xingmin Aaron, Yates, Amy, Vasilevsky, Nicole, Gourdine, J. P., Callahan, Tiffany J., Carmody, Leigh C., Danis, Daniel, Joachimiak, Marcin P., Ravanmehr, Vida, Pfaff, Emily R., Champion, James, Robasky, Kimberly, Xu, Hao, Fecho, Karamarie, Walton, Nephi A., Zhu, Richard L., Ramsdill, Justin, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., McDonald, Clement J., Vreeman, Daniel J., Peden, David B., Bennett, Tellen D., Feinstein, James A., Martin, Blake, Stefanski, Adrianne L., Hunter, Lawrence E., Chute, Christopher G., Robinson, Peter N.

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The Human Phenotype Ontology in 2021 Bằng Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources Bằng Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O B, Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael, Harris, Nomi L, Matentzoglu, Nicolas, McMurry, Julie A, Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P, Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna C, Muaz, Ahmed, Chang, Willie H, Bergerson, Jenna, Laulederkind, Stanley J F, Yüksel, Zafer, Beltran, Sergi, Freeman, Alexandra F, Sergouniotis, Panagiotis I, Durkin, Daniel, Storm, Andrea L, Hanauer, Marc, Brudno, Michael, Bello, Susan M, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T, Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G, Thompson, Rachel, Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth C, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin A, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D, Leroux, Dorothée, Boerkoel, Cornelius F, Klion, Amy, Carter, Melody C, Groza, Tudor, Smedley, Damian, Haendel, Melissa A, Mungall, Chris, Robinson, Peter N

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