Výsledky vyhledávání - David J. Harris

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  1. 1
    <p class="HeadingRunIn"><strong>A new species of <em>Aframomum </em>(Zingiberaceae) from Central Africa</strong></p>

    <p class="HeadingRunIn"><strong>A new species of <em>Aframomum </em>(Zingiberaceae) from Central Africa</strong></p> Autor Jean-Baptiste Dhetchuvi, Alexandra H. Wortley, David J. Harris

    Vydáno 2011
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  2. 2
    Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway.

    Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway. Autor Kathleen Fitzgerald, G W Cibis, Steven A Giambrone, David J. Harris

    Vydáno 1994
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  3. 3
    An information model for computable cancer phenotypes

    An information model for computable cancer phenotypes Autor Harry Hochheiser, Melissa Castine, David J. Harris, Guergana Savova, Rebecca S. Jacobson

    Vydáno 2016
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  4. 4
    Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

    Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss Autor Philip M. Kelley, David J. Harris, B.C. Comer, James W. Askew, Trent Fowler, S. D. Smith, William J. Kimberling

    Vydáno 1998
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  5. 5
    Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas

    Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas Autor Azra H. Ligon, Steven D.P. Moore, Melissa A. Parisi, Matthew E. Mealiffe, David J. Harris, Heather Ferguson, Bradley J. Quade, Cynthia C. Morton

    Vydáno 2005
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  6. 6
    DeepPhe: A Natural Language Processing System for Extracting Cancer Phenotypes from Clinical Records

    DeepPhe: A Natural Language Processing System for Extracting Cancer Phenotypes from Clinical Records Autor Guergana Savova, Eugene Tseytlin, Sean Finan, Melissa Castine, Timothy A. Miller, Olga Medvedeva, David J. Harris, Harry Hochheiser, Chen Lin, Girish Chavan, Rebecca S. Jacobson

    Vydáno 2017
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  7. 7
    Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

    Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield Autor Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Fuki M. Hisama, David W. Brown, Mary P. Mullen, David J. Harris, Joan M. Stoler, Ann Seman, David T. Miller, Qihua Fu, Amy E. Roberts, Yiping Shen

    Vydáno 2014
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  8. 8
    Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

    Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate Autor Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol L. Clericuzio, Joanne M. Drautz, Jill A. Rosenfeld, Lisa G. Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J. Harris, James F. Gusella, Eric C. Liao, Cynthia C. Morton

    Vydáno 2013
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  9. 9
    Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

    Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D Autor Margaret J. McMillin, Jennifer E. Below, Kathryn M. Shively, Anita Beck, Heidi Gildersleeve, Jason Pinner, Gloria R. Gogola, Jacqueline T. Hecht, Dorothy K. Grange, David J. Harris, Dawn Earl, Sujatha Jagadeesh, Sarju Mehta, Stephen P. Robertson, James M. Swanson, Elaine M. Faustman, Heather C Mefford, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Vydáno 2012
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  10. 10
    The complete genome, comparative and functional analysis of Stenotrophomonas maltophilia reveals an organism heavily shielded by drug resistance determinants

    The complete genome, comparative and functional analysis of Stenotrophomonas maltophilia reveals an organism heavily shielded by drug resistance determinants Autor Lisa Crossman, Virginia C. Gould, J. Maxwell Dow, Georgios S Vernikos, Aki Okazaki, Mohammed Sebaihia, David Saunders, C. Arrowsmith, Tim Carver, Nicholas Peters, Ellen Adlem, Arnaud Kerhornou, Angela Lord, Lee Murphy, Katharine Seeger, Robert Squares, Simon Rutter, Michael A. Quail, Mari-Adele Rajandream, David J. Harris, Carol Churcher, Stephen D. Bentley, Julian Parkhill, Nicholas R. Thomson, Matthew B. Avison

    Vydáno 2008
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  11. 11
    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Autor Cinthya Zepeda‐Mendoza, Jonas Ibn-Salem, Tammy Kammin, David J. Harris, Debra Rita, Karen W. Gripp, Jennifer MacKenzie, Andrea Gropman, Brett H. Graham, Ranad Shaheen, Fowzan S. Alkuraya, Campbell K. Brasington, Edward J. Spence, Diane Masser‐Frye, Lynne M. Bird, Erica Spiegel, Rebecca Sparkes, Zehra Ordulu, Michael E. Talkowski, Miguel A. Andrade‐Navarro, Peter N. Robinson, Cynthia C. Morton

    Vydáno 2017
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  12. 12
    Increased LIS1 expression affects human and mouse brain development

    Increased LIS1 expression affects human and mouse brain development Autor Weimin Bi, Tamar Sapir, Oleg A. Shchelochkov, Feng Zhang, Marjorie Withers, Jill V. Hunter, Talia Levy, Vera Shinder, Daniel A. Peiffer, Kevin L. Gunderson, Marjan M. Nezarati, Vern Ann Shotts, Stephen Amato, Sarah Savage, David J. Harris, D Day-Salvatore, Michele Horner, Xin-Yan Lu, Trilochan Sahoo, Yuchio Yanagawa, Arthur L. Beaudet, Sau Wai Cheung, Salvador Martı́nez, James R. Lupski, Orly Reiner

    Vydáno 2009
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  13. 13
    Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

    Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities Autor Michael E. Talkowski, Gilles Maussion, Liam Crapper, Jill A. Rosenfeld, Ian Blumenthal, Carrie Hanscom, Colby Chiang, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Alpha Diallo, Juan Pablo López, Gustavo Turecki, Elizabeth Chen, Carolina Oliveira Gigek, David J. Harris, Va Lip, Yu An, Marta Biagioli, Marcy E. MacDonald, Michael F. Lin, Stephen J. Haggarty, Pamela Sklar, Shaun Purcell, Manolis Kellis, Stuart Schwartz, Lisa G. Shaffer, Marvin R. Natowicz, Yiping Shen, Cynthia C. Morton, James F. Gusella, Carl Ernst

    Vydáno 2012
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  14. 14
    Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

    Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders Autor David T. Miller, Yiping Shen, Lauren A. Weiss, Joshua M. Korn, Irina Anselm, Carolyn Bridgemohan, Gerald F. Cox, Helen Dickinson, James E. Gentile, David J. Harris, Vishwajit Hegde, Rachel J. Hundley, Omar Khwaja, Sanjeev V. Kothare, Christina Luedke, Ramzi Nasir, Annapurna Poduri, Konasale M. Prasad, Peter Raffalli, Antoine Reinhard, Stephen Smith, Magdi M. Sobeih, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, Wen‐Hann Tan, Joseph V. Thakuria, Robert R. Wolff, RAMIL I. YUSUPOV, James F. Gusella, Mark J. Daly, B-L Wu

    Vydáno 2008
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  15. 15
    Opportunities and obstacles for deep learning in biology and medicine

    Opportunities and obstacles for deep learning in biology and medicine Autor Travers Ching, Daniel Himmelstein, Brett K. Beaulieu‐Jones, Alexandr A. Kalinin, T. Brian, Gregory P. Way, Enrico Ferrero, Paul‐Michael Agapow, Michael Zietz, Michael M. Hoffman, Wei Xie, Gail Rosen, Benjamin J. Lengerich, Johnny Israeli, Jack Lanchantin, Stephen Woloszynek, Anne E. Carpenter, Avanti Shrikumar, Jinbo Xu, Evan M. Cofer, Christopher A. Lavender, Srinivas C. Turaga, Amr M. Alexandari, Zhiyong Lu, David J. Harris, David DeCaprio, Yanjun Qi, Anshul Kundaje, Yifan Peng, Laura K. Wiley, Marwin Segler, Simina M. Boca, S. Joshua Swamidass, Austin Huang, Anthony Gitter, Casey S. Greene

    Vydáno 2018
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  16. 16
    Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

    Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project Autor Anne W. Higgins, Fowzan S. Alkuraya, Amy F. Bosco, Kerry K. Brown, G.A.P. Bruns, Diana Donovan, R.E. Eisenman, Yanli Fan, Chantal G. Farra, Heather Ferguson, James F. Gusella, David J. Harris, Steven R. Herrick, Chantal Kelly, Hyung Goo Kim, Shotaro Kishikawa, Bruce R. Korf, Shashikant Kulkarni, Eric Lally, Natalia T. Leach, Emma Lemyre, Janine Lewis, Azra H. Ligon, Lu W, Richard L. Maas, Marcy E. MacDonald, Steven D.P. Moore, Roxanna E. Peters, Bradley J. Quade, Fabiola Quintero‐Rivera, Irfan Saadi, Yiping Shen, Jay Shendure, Robin E. Williamson, Cynthia C. Morton

    Vydáno 2008
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  17. 17
    Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

    Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies Autor Hyung‐Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas M. Ruderfer, Ji‐Hyun Lee, Caron D. Glotzbach, Kyungsoo Ha, Susanne Kjærgaard, Alex V. Levin, Bernd Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H. Elsea, Ethylin Wang Jabs, Marcy E. MacDonald, David J. Harris, Bradley J. Quade, Hans‐Hilger Ropers, Lisa G. Shaffer, Kerstin Kutsche, Lawrence C. Layman, Niels Tommerup, Vera M. Kalscheuer, Yang Shi, Cynthia C. Morton, Cheol‐Hee Kim, James F. Gusella

    Vydáno 2012
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  18. 18
    Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries Autor Michael E. Talkowski, Jill A. Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth J. Rossin, Amelia M. Lindgren, Shahrin Pereira, Douglas M. Ruderfer, Andrew Kirby, Stephan Ripke, David J. Harris, Ji‐Hyun Lee, Kyungsoo Ha, Hyung‐Goo Kim, Benjamin D. Solomon, Andrea Gropman, Diane Lucente, Katherine B. Sims, Toshiro K. Ohsumi, Mark L. Borowsky, Stephanie Loranger, Bradley J. Quade, Kasper Lage, Judith H. Miles, Bai-Lin Wu, Yiping Shen, Benjamin M. Neale, Lisa G. Shaffer, Mark J. Daly, Cynthia C. Morton, James F. Gusella

    Vydáno 2012
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  19. 19
    Copy number variation plays an important role in clinical epilepsy

    Copy number variation plays an important role in clinical epilepsy Autor Heather E. Olson, Yiping Shen, Jennifer Avallone, Beth Rosen Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Z. Ekşioğlu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev V. Kothare, Omar Khwaja, Jonathan O. Lipton, Tobias Loddenkemper, Jennifer A. Markowitz, Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy E. Roberts, Eugene Roe, Caitlin K. Rollins, Mustafa Şahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, Wen‐Hann Tan, Alcy Torres, Peter T. Tsai, David K. Urion, Laura Weissman, Robert R. Wolff, Bai‐Lin Wu, David T. Miller, Annapurna Poduri

    Vydáno 2014
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  20. 20
    Physical distancing, face masks, and eye protection to prevent person-to-person transmission of SARS-CoV-2 and COVID-19: a systematic review and meta-analysis

    Physical distancing, face masks, and eye protection to prevent person-to-person transmission of SARS-CoV-2 and COVID-19: a systematic review and meta-analysis Autor Derek K. Chu, Elie A Akl, Stephanie Duda, Karla Solo, Sally Yaacoub, Holger J. Schünemann, Derek K. Chu, Elie A. Akl, Amena El‐Harakeh, Antonio Bognanni, Tamara Lotfi, Mark Loeb, Anisa Hajizadeh, Anna Bąk, Ariel Izcovich, Carlos A. Cuello‐García, Chen Chen, David J. Harris, E Borowiack, Fatimah Chamseddine, Finn Schünemann, Gian Paolo Morgano, Giovanna E.U. Muti Schünemann, Guang Chen, Hong Zhao, Ignacio Neumann, Jeffrey Shi Kai Chan, Joanne Khabsa, Layal Hneiny, Leila Harrison, Maureen Smith, Nesrine Rizk, Paolo Giorgi Rossi, Pierre Abihanna, Rayane El-Khoury, Rosa Stalteri, Tejan Baldeh, Thomas Piggott, Yuan Zhang, Zahra Saad, Assem M. Khamis, Marge Reinap, Stephanie Duda, Karla Solo, Sally Yaacoub, Holger J. Schünemann

    Vydáno 2020
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