Hasil Pencarian - Michelle L. Thompson

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  1. 1
    Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

    Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease oleh Anne M. Slavotinek, Michelle L. Thompson, Lisa J. Martin, Bruce D. Gelb

    Diterbitkan 2024-07-01
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  2. 2
    Solar radiation during rewarming from torpor in elephant shrews: supplementation or substitution of endogenous heat production?

    Solar radiation during rewarming from torpor in elephant shrews: supplementation or substitution of endogenous heat production? oleh Michelle L Thompson, Nomakwezi Mzilikazi, Nigel C Bennett, Andrew E McKechnie

    Diterbitkan 2015-01-01
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  3. 3
    Somatic cell selection for chlorsulfuron-resistant mutants in potato: identification of point mutations in the acetohydroxyacid synthase gene

    Somatic cell selection for chlorsulfuron-resistant mutants in potato: identification of point mutations in the acetohydroxyacid synthase gene oleh Philippa J. Barrell, Julie M. Latimer, Samantha J. Baldwin, Michelle L. Thompson, Jeanne M.E. Jacobs, Anthony J. Conner

    Diterbitkan 2017-06-01
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  4. 4
    TorsinA rescues ER-associated stress and locomotive defects in C. elegans models of ALS

    TorsinA rescues ER-associated stress and locomotive defects in C. elegans models of ALS oleh Michelle L. Thompson, Pan Chen, Xiaohui Yan, Hanna Kim, Akeem R. Borom, Nathan B. Roberts, Kim A. Caldwell, Guy A. Caldwell

    Diterbitkan 2014-02-01
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  5. 5
    Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

    Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing oleh Kevin M. Bowling, Michelle L. Thompson, Melissa A. Kelly, Sarah Scollon, Anne M. Slavotinek, Bradford C. Powell, Brian M. Kirmse, Laura G. Hendon, Kyle B. Brothers, Bruce R. Korf, Gregory M. Cooper, John M. Greally, Anna C. E. Hurst

    Diterbitkan 2022-11-01
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  6. 6
    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.

    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. oleh Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M Cooper, Michelle L Thompson, Benedicte Duban-Bedu, Benedicte Gerard, Amelie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter Turnpenny, Michael P Williamson, Yves Alembik, Clinical Sequencing Exploratory Research Study Consortium, Deciphering Developmental Disorders Consortium, Eric Glasgow, Alisdair McNeill

    Diterbitkan 2017-08-01
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  7. 7
    338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

    338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care oleh Nita A Limdi, Devin Absher, Irf Asif, Lori Bateman, Greg Barsh, Kevin M. Bowling, Gregory M. Cooper, Brittney H. Davis, Kelly M. East, Candice R. Finnila, Blake Goff, Susan Hiatt, Melissa Kelly, Whitley V. Kelley, Bruce R. Korf, Donald R. Latner, James Lawlor, Thomas May, Matt Might, Irene P. Moss, Mariko Nakano-Okuno, Tiffany Osborne, Stephen Sodeke, Adriana Stout, Michelle L. Thompson

    Diterbitkan 2023-04-01
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  8. 8
    Genomic diagnosis for children with intellectual disability and/or developmental delay

    Genomic diagnosis for children with intellectual disability and/or developmental delay oleh Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper

    Diterbitkan 2017-05-01
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  9. 9
    Bird tolerance to humans in open tropical ecosystems

    Bird tolerance to humans in open tropical ecosystems oleh Peter Mikula, Oldřich Tomášek, Dušan Romportl, Timothy K. Aikins, Jorge E. Avendaño, Bukola D. A. Braimoh-Azaki, Adams Chaskda, Will Cresswell, Susan J. Cunningham, Svein Dale, Gabriela R. Favoretto, Kelvin S. Floyd, Hayley Glover, Tomáš Grim, Dominic A. W. Henry, Tomas Holmern, Martin Hromada, Soladoye B. Iwajomo, Amanda Lilleyman, Flora J. Magige, Rowan O. Martin, Marina F. de A. Maximiano, Eric D. Nana, Emmanuel Ncube, Henry Ndaimani, Emma Nelson, Johann H. van Niekerk, Carina Pienaar, Augusto J. Piratelli, Penny Pistorius, Anna Radkovic, Chevonne Reynolds, Eivin Røskaft, Griffin K. Shanungu, Paulo R. Siqueira, Tawanda Tarakini, Nattaly Tejeiro-Mahecha, Michelle L. Thompson, Wanyoike Wamiti, Mark Wilson, Donovan R. C. Tye, Nicholas D. Tye, Aki Vehtari, Piotr Tryjanowski, Michael A. Weston, Daniel T. Blumstein, Tomáš Albrecht

    Diterbitkan 2023-04-01
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  10. 10
    Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

    Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors oleh Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp

    Diterbitkan 2024-09-01
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  11. 11
    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders oleh Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A. Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul Mark, Margaret H. Harr, Hakon Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A. Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H. Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C. E. Hurst, Michelle L. Thompson, Anna Chassevent, Constance L. Smith-Hicks, Xavier de la Cruz, Alexander M. Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, Genomic England Research Consortium, Deborah L. French, Elizabeth A. Heller, Murielle Saade, Hongjun Song, Guo-li Ming, Fowzan S. Alkuraya, Pankaj B. Agrawal, Danny Reinberg, Elizabeth J. Bhoj, Marian A. Martínez-Balbás, Naiara Akizu

    Diterbitkan 2023-07-01
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