Resultados da pesquisa - Aaron Bossler

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  1. 1
    Novel mutations in<i>ENG</i>and<i>ACVRL1</i>identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

    Novel mutations in<i>ENG</i>and<i>ACVRL1</i>identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlati... Por Aaron Bossler, Jennifer A. Richards, Cicily George, Lynn Godmilow, Arupa Ganguly

    Publicado em 2006
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  2. 2
    Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis

    Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis Por Linda M. Sabatini, Charles Mathews, Devon M. Ptak, Shivang Doshi, Katherine Tynan, Madhuri Hegde, Tara L. Burke, Aaron Bossler

    Publicado em 2016
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  3. 3
    Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy

    Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy Por Aaron A. Stence, Jon Thomason, Jonathan A. Pruessner, Ramakrishna Sompallae, Anthony N. Snow, Deqin Ma, Steven A. Moore, Aaron Bossler

    Publicado em 2021
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  4. 4
    Impaired PTPN13 phosphatase activity in spontaneous or HPV-induced squamous cell carcinomas potentiates oncogene signaling through the MAP kinase pathway

    Impaired PTPN13 phosphatase activity in spontaneous or HPV-induced squamous cell carcinomas potentiates oncogene signaling through the MAP kinase pathway Por A. Hoover, Guinevere L. Strand, Paul Nowicki, Mark E. Anderson, Paola D. Vermeer, Aloysius J. Klingelhutz, Aaron Bossler, James V. Pottala, Wiljan Hendriks, J H Lee

    Publicado em 2009
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  5. 5
    The PDZ Binding Motif of Human Papillomavirus Type 16 E6 Induces PTPN13 Loss, Which Allows Anchorage-Independent Growth and Synergizes with Ras for Invasive Growth

    The PDZ Binding Motif of Human Papillomavirus Type 16 E6 Induces PTPN13 Loss, Which Allows Anchorage-Independent Growth and Synergizes with Ras for Invasive Growth Por William C. Spanos, A. Hoover, George F. Harris, Shu Wu, Guinevere L. Strand, Mary E. Anderson, Aloysius J. Klingelhutz, Wiljan Hendriks, Aaron Bossler, John H. Lee

    Publicado em 2007
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  6. 6
    Evaluation of the Bruker Biotyper and Vitek MS Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry Systems for Identification of Nonfermenting Gram-Negative Bacilli Isolated from Cultures from Cystic Fibrosis Patients

    Evaluation of the Bruker Biotyper and Vitek MS Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry Systems for Identification of Nonfermenting Gram-Negativ... Por Daniel C. Marko, Ryan T. Saffert, Scott A. Cunningham, Jay M. Hyman, John D. Walsh, Sophie Arbefeville, Wanita J. Howard, Jens C. Pruessner, Nedal Safwat, Franklin R. Cockerill, Aaron Bossler, Robin Patel, Sandra S. Richter

    Publicado em 2012
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  7. 7
    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases Por M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven A. Skinner, Nikhil Sahajpal, Vanessa Rodríguez‐Fanjul, Aaron A. Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger E. Stevenson, Aaron Bossler, Péter L. Nagy, Ravindra Kolhe

    Publicado em 2023
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  8. 8
    TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

    TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy Por Austin Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore

    Publicado em 2018
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  9. 9
    Pharmacological ascorbate improves the response to platinum-based chemotherapy in advanced stage non-small cell lung cancer

    Pharmacological ascorbate improves the response to platinum-based chemotherapy in advanced stage non-small cell lung cancer Por Muhammad Furqan, Taher Abu Hejleh, Laura Stephens, Stacey M. Hartwig, Sarah L. Mott, Casey Pulliam, Michael S. Petronek, John B. Henrich, Melissa A. Fath, Jon C. D. Houtman, Steven M. Varga, Kellie L. Bodeker, Aaron Bossler, Andrew M. Bellizzi, Jun Zhang, Varun Monga, Hariharasudan Mani, Marina Ivanovic, Bruce A. Smith, Margaret M. Byrne, William Zeitler, Brett A. Wagner, Garry R. Buettner, Joseph J. Cullen, John M. Buatti, Douglas R. Spitz, Bryan G. Allen

    Publicado em 2022
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  10. 10
    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge Por Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, Elizabeth T. DeChene, Meghan C. Towne, Sarah Savage, Emily Price, Ingrid A. Holm, Lovelace J. Luquette, Elaine Lyon, Joseph A. Majzoub, Peter Neupert, David P. McCallie, Peter Szolovits, Huntington F. Willard, Nancy J. Mendelsohn, Renee Temme, Richard S. Finkel, Sabrina W. Yum, Līvija Medne, Shamil Sunyaev, Ivan Adzhubey, Christopher A. Cassa, Paul IW de Bakker, Hatice Duzkale, Piotr Dworzyński, William G. Fairbrother, Laurent C. Francioli, Birgit Funke, Monica A. Giovanni, Robert E. Handsaker, Kasper Lage, Matthew S. Lebo, Monkol Lek, Ignaty Leshchiner, Daniel G. MacArthur, Heather M. McLaughlin, Michael F. Murray, Tune H. Pers, Paz Polak, Soumya Raychaudhuri, Heidi L. Rehm, Rachel Soemedi, Nathan O. Stitziel, Sara Vestecka, Jochen Supper, Claudia Gugenmus, Bernward Klocke, Alexander Hahn, Max Schubach, Mortiz Menzel, Saskia Biskup, Peter Freisinger, Mario C. Deng, Martin Braun, Sven Perner, Richard J. Smith, Janeen L Andorf, Jian Huang, Kelli K. Ryckman, Val C. Sheffield, Edwin M. Stone, Thomas Bair, E. Ann Black-Ziegelbein, Terry A. Braun, Benjamin W. Darbro, Adam P. DeLuca, Diana L. Kolbe, Todd E. Scheetz, A. Eliot Shearer, Rama Sompallae, Kai Wang, Alexander G. Bassuk, Erik Edens, Katherine D. Mathews, Steven A. Moore, Oleg A. Shchelochkov, Pamela Trapane, Aaron Bossler, Colleen A. Campbell, Jonathan W. Heusel, Anne E. Kwitek, Tara Maga, Karin Panzer, Thomas H. Wassink, Douglas J. Van Daele, Héla Azaiez, Kevin T. Booth, Nic Meyer, Michael M. Segal, Marc S. Williams, Gerard Tromp, Peter White, Donald J. Corsmeier, Sara Fitzgerald‐Butt, Gail E. Herman, Devon Lamb-Thrush

    Publicado em 2014
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