نتائج البحث - Hsiao‐Tuan Chao

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  1. 1
    MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number

    MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number حسب Hsiao‐Tuan Chao, Huda Y. Zoghbi, Christian Rosenmund

    منشور في 2007
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    Artigo
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  2. 2
    Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity

    Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity حسب Mingshan Xue, Timothy K. Craig, Junjie Xu, Hsiao‐Tuan Chao, Josep Rizo, Christian Rosenmund

    منشور في 2010
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    Artigo
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  3. 3
    In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

    In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em> حسب J. Michael Harnish, Samantha L. Deal, Hsiao‐Tuan Chao, Michael F. Wangler, Shinya Yamamoto

    منشور في 2019
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    Artigo
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  4. 4
    Distinct domains of complexin I differentially regulate neurotransmitter release

    Distinct domains of complexin I differentially regulate neurotransmitter release حسب Mingshan Xue, Kerstin Reim, Xiaocheng Chen, Hsiao‐Tuan Chao, Hui Deng, Josep Rizo, Nils Brose, Christian Rosenmund

    منشور في 2007
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    Artigo
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  5. 5
    Math1 Is Essential for the Development of Hindbrain Neurons Critical for Perinatal Breathing

    Math1 Is Essential for the Development of Hindbrain Neurons Critical for Perinatal Breathing حسب Matthew F. Rose, Jun Ren, Kaashif A. Ahmad, Hsiao-Tuan Chao, Tiemo J. Klisch, Adriano Flora, John J. Greer, Huda Y. Zoghbi

    منشور في 2009
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    Artigo
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  6. 6
    Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

    Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research حسب Michael F. Wangler, Shinya Yamamoto, Hsiao‐Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, Philip Hieter, Kym M. Boycott, Philippe M. Campeau, Hugo J. Bellen

    منشور في 2017
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    Revisão
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  7. 7
    Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of<i>MECP2</i>Duplication Syndrome

    Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of<i>MECP2</i>Duplication Syndrome حسب Minghui Jiang, Ryan T. Ash, Steven Andrew Baker, Bernhard Suter, Andrew Ferguson, Ji-Young Park, Jessica Rudy, Sergey P. Torsky, Hsiao‐Tuan Chao, Huda Y. Zoghbi, Stelios M. Smirnakis

    منشور في 2013
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  8. 8
    Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

    Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy حسب Wu Chen, Zhao‐Lin Cai, Eugene Chao, Hongmei Chen, Colleen M Longley, Shuang Hao, Hsiao‐Tuan Chao, Joo Hyun Kim, Jessica Messier, Huda Y. Zoghbi, Jianrong Tang, John W. Swann, Mingshan Xue

    منشور في 2020
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  9. 9
    Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress

    Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress حسب Sharyl L. Fyffe, Jeffrey L. Neul, Rodney C. Samaco, Hsiao-Tuan Chao, Shay Ben‐Shachar, Paolo Moretti, Bryan E. McGill, Evan H Goulding, Elinor L. Sullivan, Laurence H. Tecott, Huda Y. Zoghbi

    منشور في 2008
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    Artigo
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  10. 10
    Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

    Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities حسب Rodney C. Samaco, Caleigh Mandel‐Brehm, Hsiao-Tuan Chao, Christopher Ward, Sharyl L. Fyffe-Maricich, Jun Ren, Keith Hyland, Christina Thaller, Stephen M. Maricich, Peter Humphreys, John J. Greer, Alan K. Percy, Daniel G. Glaze, Huda Y. Zoghbi, Jeffrey L. Neul

    منشور في 2009
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    Artigo
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  11. 11
    Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

    Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes حسب Hsiao-Tuan Chao, Hongmei Chen, Rodney C. Samaco, Mingshan Xue, Maria H. Chahrour, Jong W. Yoo, Jeffrey L. Neul, Shiaoching Gong, Hui-Chen Lu, Nathaniel Heintz, Marc Ekker, John L.R. Rubenstein, Jeffrey L. Noebels, Christian Rosenmund, Huda Y. Zoghbi

    منشور في 2010
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  12. 12
    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

    Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing حسب David R. Murdock, Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller, Vicente A. Yépez, Julien Gagneur, Pengfei Liu, Shan Chen, Mahim Jain, Gladys Zapata, Carlos A. Bacino, Hsiao‐Tuan Chao, Paolo Moretti, William J. Craigen, Neil A. Hanchard, Brendan Lee

    منشور في 2020
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    Artigo
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  13. 13
    The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

    The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing حسب Shenglan Li, Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley, Mezthly Pena, Kim C. Worley, Lindsay C. Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J. Craigen, Gary Clark, Seema R. Lalani, Carlos A. Bacino, Keren Machol, Hsiao‐Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer L. Sheppard, M. Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh CS. Nagamani, Zhandong Liu, Christine M. Eng, Brendan Lee, Pengfei Liu

    منشور في 2024
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  14. 14
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants حسب Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    منشور في 2017
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    Artigo
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  15. 15
    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation حسب Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov, Anita Beck, Emily Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz‐Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary Kay Koenig, Madeline Graf, Alyssa A. Tran, Mercedes E. Alejandro, Brendan Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao‐Tuan Chao, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine

    منشور في 2020
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  16. 16
    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement حسب Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy L. Schneider, Emily Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman‐Sagie, Kristen Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Geneviève, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao‐Tuan Chao, Geoffrey Neale, Gemma L. Carvill, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadiković, Heather C. Mefford

    منشور في 2024
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    Artigo
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  17. 17
    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases حسب Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei‐Chu Huang, Colleen M Longley, Hsiao‐Tuan Chao, Hyunglok Chung, Nele A. Haelterman, Oguz Kanca, Sathiyanarayanan Manivannan, Linda Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaëtan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frédéric Tran Mau‐Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto

    منشور في 2022
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    Artigo
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  18. 18
    Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

    Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes حسب Yingxi Wang, Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, S. Tracy, Ying‐Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth L. Appelbaum, Titilope M. Akinwe, Rodrigo Starosta Tzovenos, Yang Cao, Amber Neilson, Yu Liu, Nathaniel Jensen, Reza Ghasemi, Tina Lindsay, Juana G. Manuel, Sophia Couteranis, Milinn Kremitzki, Jack Ustanik, Thomas Antonacci, Jeffrey K. Ng, Andrew Emory, Laura B. Metz, Tracie DeLuca, Katherine N. Lyons, Toni M. Sinnwell, Brianne Thomeczek, K.H. Wang, Nick Sisneros, Megha Muraleedharan, Anantha Kethireddy, Marco Corbo, Harsha Gowda, Katherine Y. King, Christina A. Gurnett, Susan K. Dutcher, Catherine Gooch, Yang Eric Li, Matthew W. Mitchell, Kevin A. Peterson, Amjad Horani, Jill A. Rosenfeld, Weimin Bi, Paweł Stankiewicz, Hsiao‐Tuan Chao, Jennifer E. Posey, Christopher M. Grochowski, Zain Dardas, Erik G. Puffenberger, Christopher E. Pearson, R. Frank Kooy, Dale Annear, A. Micheil Innes, Michael Heinz, Richard D. Head, Robert E. Fulton, Stephan Toutain, Lucinda Antonacci-Fulton, Xiaoxia Cui, Robi D. Mitra, F. Sessions Cole, Julie Neidich, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner

    منشور في 2025
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    Pré-impressão
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  19. 19
    MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

    MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome حسب Julia Wang, Rami Al‐Ouran, Yanhui Hu, Seon‐Young Kim, Ying‐Wooi Wan, Michael F. Wangler, Shinya Yamamoto, Hsiao‐Tuan Chao, Aram Comjean, Stephanie E. Mohr, Norbert Perrimon, Zhandong Liu, Hugo J. Bellen, David R. Adams, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Anna Bican, David Bick, Camille L. Birch, Braden Boone, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Katherine R. Chao, Gary Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, William A. Gahl, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen Golas, David Goldstein, Mary “Gracie” G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine Groden, Andrea Gropman, Mary E. Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew Herzog, Ingrid A. Holm, Ellen M. Howerton, Howard J. Jacob, Mahim Jain, Yong‐hui Jiang, Jean M. Johnston, Angela Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar, Brendan Lee, Hane Lee, Paul R. Lee, Shawn Levy

    منشور في 2017
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    Artigo
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  20. 20
    Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

    Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification حسب Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth, Alissa J. Becerril, Austin Larson, Wadih M. Zein, Peter R. Baker, John D. Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R. Adams, Patricia M. Zerfas, Dong Chen, Thomas C. Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu, Wei Zheng, Lisa Garrett, Cynthia J. Tifft, William A. Gahl, Debra Day‐Salvatore, Joseph A. Mindell, May Christine V. Malicdan, Maria T. Acosta, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak‐Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden Boone, Bret L. Bostwick, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernández, Carlos R. Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel

    منشور في 2019
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