Resultats de la cerca - Alexander Tchourbanov

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  1. 1
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup per Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Publicat 2023
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  2. 2
    Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

    Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis per Christopher J. Rhodes, Ken Batai, Marta Bleda, Matthias Haimel, Laura Southgate, Marine Germain, Michael W. Pauciulo, Charaka Hadinnapola, Jurjan Aman, Barbara Girerd, Amit Arora, Jo Knight, Ken B. Hanscombe, Jason H. Karnes, Marika Kaakinen, Henning Gall, Anna Ulrich, Lars Harbaum, Inês Cebola, Jorge Ferrer, Katie A. Lutz, Emilia M. Swietlik, Ferhaan Ahmad, Philippe Amouyel, Stephen L. Archer, Rahul Argula, Eric D. Austin, David B. Badesch, Sahil Bakshi, Christopher F. Barnett, Raymond L. Benza, Nitin Bhatt, Harm Jan Bogaard, Charles D. Burger, Murali M. Chakinala, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Stéphanie Debette, C. Gregory Elliott, Jean Elwing, Mélanie Eyries, Terry Fortin, André Franke, Robert P. Frantz, Adaani Frost, Joe G. N. Garcia, Stefano Ghio, Hossein Ardeschir Ghofrani, J. Simon R. Gibbs, John B. Harley, Hua He, Nicholas S. Hill, Russel Hirsch, Arjan C. Houweling, Luke Howard, D. Dunbar Ivy, David G. Kiely, James R. Klinger, Gábor Kovács, Tim Lahm, Matthias Laudes, Rajiv D. Machado, Robert V. MacKenzie Ross, Keith Marsolo, Lisa J. Martin, Shahin Moledina, David Montani, Steven D. Nathan, Michael Newnham, Andrea Olschewski, Horst Olschewski, Ronald J. Oudiz, Willem H. Ouwehand, Andrew J. Peacock, Joanna Pepke‐Żaba, Zia Ur Rehman, Ivan M. Robbins, Dan M. Roden, Erika B. Rosenzweig, Ghulam Saydain, Laura Scelsi, Robert Schilz, Werner Seeger, Christian M. Shaffer, Robert W. Simms, Marc A. Simon, Olivier Sitbon, Jay Suntharalingam, Haiyang Tang, Alexander Tchourbanov, Thenappan Thenappan, Fernando Torres, Mark Toshner, Carmen Treacy, Anton Vonk Noordegraaf, Quinten Waisfisz, Anna K. Walsworth

    Publicat 2018
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