检索结果 - Michael Silk

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  1. 1
    MTR-Viewer: identifying regions within genes under purifying selection

    MTR-Viewer: identifying regions within genes under purifying selection 由 Michael Silk, Slavé Petrovski, David B. Ascher

    出版 2019
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  2. 2
    Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

    Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation 由 Joshua L. Traynelis, Michael Silk, Quanli Wang, Samuel F. Berkovic, Liping Liu, David B. Ascher, David J. Balding, Slavé Petrovski

    出版 2017
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  3. 3
    Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource

    Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource 由 Stephanie Portelli, Moshe Olshansky, Carlos H. M. Rodrigues, Elston N. D’Souza, Yoochan Myung, Michael Silk, Azadeh Alavi, Douglas E. V. Pires, David B. Ascher

    出版 2020
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  4. 4
    A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

    A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction 由 Joanne M. Hildebrand, Maria Kauppi, Ian J. Majewski, Zikou Liu, Allison Cox, Sanae Miyake, Emma J. Petrie, Michael Silk, Zhixiu Li, Maria C. Tanzer, Gabriela Brumatti, Samuel N. Young, Cathrine Hall, Sarah E. Garnish, Jason Corbin, Michael D. Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C. Josefsson, Kristin A. Rigbye, Holly Anderton, James Rickard, Anne Tripaydonis, Julie M. Sheridan, Thomas Scerri, Victoria E. Jackson, Peter E. Czabotar, Jian‐Guo Zhang, Leila N. Varghese, Cody Allison, Marc Pellegrini, Gillian M. Tannahill, Esme C. Hatchell, Tracy A. Willson, Dina Stockwell, Carolyn A. de Graaf, Janelle E. Collinge, Adrienne A. Hilton, Natasha Silke, Sukhdeep K. Spall, Diep Chau, Vicki Athanasopoulos, Donald Metcalf, Ronald M. Laxer, Alexander G. Bassuk, Benjamin W. Darbro, Maria A. Fiatarone Singh, Nicole Vlahovich, David Hughes, Maria Kozlovskaia, David B. Ascher, Klaus Warnatz, Nils Venhoff, Jens Thiel, Christine Biben, Stefan Blum, John D. Reveille, Michael S. Hildebrand, Carola G. Vinuesa, Pamela McCombe, Matthew A. Brown, Benjamin T. Kile, Catriona McLean, Melanie Bahlo, Seth L. Masters, Hiroyasu Nakano, Polly J. Ferguson, James M. Murphy, Warren S. Alexander, John Silke

    出版 2020
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  5. 5
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 由 Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    出版 2022
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