Torthaí cuardaigh - Thomas Defay

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  1. 1
    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome de réir Mallory Owen, Anna‐Kaisa Niemi, David Dimmock, Mark Speziale, Mark Nespeca, Kevin Chau, Luca Van Der Kraan, Meredith S. Wright, Christian Holm Hansen, Narayanan Veeraraghavan, Yan Ding, Jerica Lenberg, Shimul Chowdhury, Charlotte A. Hobbs, Serge Batalov, Zhanyang Zhu, Shareef Nahas, Sheldon Gilmer, G. R. Knight, Sébastien Lefebvre, John Reynders, Thomas Defay, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Bryan R. Lajoie, Tim K McPhail, Shyamal Mehtalia, Chris M. Kunard, Kevin P. Hall, Stephen F. Kingsmore

    Foilsithe / Cruthaithe 2021
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    Carta
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  2. 2
    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

    A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases de réir Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Serge Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, David Dimmock, Yan Ding, Katarzyna A. Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Holm Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark J. Kiel, Lucita Van Der Kraan, Chad Krilow, Yong Hyun Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sébastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory Owen, George S. Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal Mehtalia, Albert Oriol, Stavros Papadopoulos, James C. Perry, Edwin F. Juarez, Erica Sanford Kobayashi, Steven J. Schwartz, Duke Tran, Martin G. Reese, Meredith S. Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary Willis, Aaron R. Wolen, Thomas Defay

    Foilsithe / Cruthaithe 2022
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    Revisão
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  3. 3
    Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

    Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation de réir Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding, Shimul Chowdhury, Kelly Watkins, Katarzyna A. Ellsworth, Brandon Camp, Cyrielle Kint, Calum Yacoubian, Lauge Farnaes, Matthew N. Bainbridge, Curtis Beebe, Joshua J.A. Braun, Margaret Bray, Jeanne Carroll, Julie A. Cakici, Sara Caylor, Christina Clarke, Mitchell Creed, Jennifer Friedman, Alison Frith, Richard Gain, Mary Gaughran, Shauna George, Sheldon Gilmer, Joseph G. Gleeson, Jeremy Gore, Haiying Grunenwald, Raymond Hovey, M. Janes, Kejia Lin, Paul McDonagh, Kyle McBride, Patrick Mulrooney, Shareef Nahas, Daeheon Oh, Albert Oriol, Laura Puckett, Zia Rady, Martin G. Reese, Julie Ryu, Lisa Salz, Erica Sanford Kobayashi, Lawrence Stewart, Nathaly M. Sweeney, Mari Tokita, Luca Van Der Kraan, Sarah White, Kristen Wigby, Brett Williams, Terence C. Wong, Meredith S. Wright, Catherine Yamada, Peter Schols, John Reynders, Kevin P. Hall, David Dimmock, Narayanan Veeraraghavan, Thomas Defay, Stephen F. Kingsmore

    Foilsithe / Cruthaithe 2019
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    Artigo
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  4. 4
    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

    An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases de réir Mallory Owen, Sébastien Lefebvre, Christian Holm Hansen, Chris M. Kunard, David Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary Willis, Annette Feigenbaum, Anna‐Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna A. Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal Mehtalia, Kevin Chau, Yong Hyun Kwon, Zhanyang Zhu, Serge Batalov, Shimul Chowdhury, Seema Rego, James C. Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, G. R. Knight, Albert Oriol, Jerica Lenberg, Shareef Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford Kobayashi, Kristen Wigby, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Seka Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew M. Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

    Foilsithe / Cruthaithe 2022
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    Artigo
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