نتائج البحث - Jamie Weyandt
- يعرض 1 - 4 نتائج من 4
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BRCA1 frameshift variants leading to extended incorrect protein C termini حسب Thales C. Nepomuceno, Tzeh Keong Foo, Marcy E. Richardson, John Michael O. Rañola, Jamie Weyandt, Matthew J. Varga, Amaya Alarcon, Diana Gutiérrez, Anna von Wachenfeldt, Daniel Eriksson, Raymond H. Kim, Susan Randall Armel, Edwin S. Iversen, Fergus J. Couch, Åke Borg, Bing Xia, Marcelo A. Carvalho, Álvaro N.A. Monteiro
منشور في 2023Artigo -
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain حسب Chunling Hu, Huaizhi Huang, Jie Na, Carolyn A. Lumby, Mohamed Abozaid, Megan Holdren, T. Jagan Mohan Rao, Rachid Karam, Tina Pesaran, Jamie Weyandt, Christen M. Csuy, Christina Seelaus, Colin C. Young, Kelly Fulk, Zahra Heidari, Paulo C. Lyra, Ronan E. Couch, Benjamin Persons, Eric C. Polley, Rohan Gnanaolivu, Nicholas J. Boddicker, Álvaro N.A. Monteiro, Siddhartha Yadav, Susan M. Domchek, Marcy E. Richardson, Fergus J. Couch
منشور في 2024Artigo -
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel حسب Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, Sandrine M. Caputo, Raymond C. Chan, Melissa Cline, Bing Feng, Cristina Fortuño, E. Gómez, Johanna Hadler, Susan Hiraki, Megan Holdren, Claude Houdayer, Kathleen S. Hruska, Paul A. James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen R. Mensenkamp, Álvaro N.A. Monteiro, Vaishnavi Nathan, Robert O’Connor, Inge Søkilde Pedersen, Tina Pesaran, Paolo Radice, Gunnar Schmidt, Melissa C. Southey, Sean V. Tavtigian, Bryony A. Thompson, Amanda E. Toland, Clare Turnbull, Maartje J. Vogel, Jamie Weyandt, George A. R. Wiggins, Lauren Zec, Fergus J. Couch, Logan C. Walker, Maaike P.G. Vreeswijk, David E. Goldgar, Amanda B. Spurdle
منشور في 2024Artigo