Hasil Pencarian - Heidi Cope

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  1. 1
    Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

    Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy oleh Christine I. Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S. Kishnani

    Diterbitkan 2017-09-01
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  2. 2
    P680: Implementing community engagement to refine education and consent materials for newborn genomic sequencing research

    P680: Implementing community engagement to refine education and consent materials for newborn genomic sequencing research oleh Ana Forsythe, Rebecca Moultrie, Sara Andrews, Mary Beth Boyea, Heidi Cope, Holly Peay

    Diterbitkan 2023-01-01
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  3. 3
    Adults with lysosomal storage diseases in the undiagnosed diseases network

    Adults with lysosomal storage diseases in the undiagnosed diseases network oleh Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro

    Diterbitkan 2022-09-01
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  4. 4
    Age of diagnosis for children with chromosome 15q syndromes

    Age of diagnosis for children with chromosome 15q syndromes oleh Anne C. Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley

    Diterbitkan 2023-11-01
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  5. 5
    P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina: Results from Early Check*

    P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina: Results from Early Check* oleh Katerina Kucera, Mary Beth Boyea, Brooke Migliore, Veronica Robles, Heidi Cope, Catherine Rehder, Edward Smith, Don Bailey, Holly Peay

    Diterbitkan 2023-01-01
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  6. 6
    NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

    NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders oleh Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower

    Diterbitkan 2023-10-01
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  7. 7
    A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4

    A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4 oleh Selin Gümüşderelioğlu, Lauren Resch, Trisha Brock, Undiagnosed Diseases Network, G. W. Gant Luxton, Heidi Cope, Queenie K.-G. Tan, Christopher Hopkins, Daniel A. Starr

    Diterbitkan 2023-08-01
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  8. 8
    Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.

    Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. oleh Christina A Markunas, Karen Soldano, Kaitlyn Dunlap, Heidi Cope, Edgar Asiimwe, Jeffrey Stajich, David Enterline, Gerald Grant, Herbert Fuchs, Simon G Gregory, Allison E Ashley-Koch

    Diterbitkan 2013-01-01
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  9. 9
    Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

    Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey oleh Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi

    Diterbitkan 2021-07-01
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  10. 10
    P514: Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check

    P514: Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check oleh Heidi Cope, Rebecca Wright, Ana Forsythe, Rebecca Moultrie, Sara Andrews, Samantha Scott, Sa'Nealdra Wiggins, Blythe Crissman, Emily Cheves, Melissa Raspa, Lisa Gehtland, Jennifer Law, Cynthia Powell, Holly Peay

    Diterbitkan 2024-01-01
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  11. 11
    P563: With great panels comes great responsibility: In pursuit of a well-evidenced age-based genomic screen

    P563: With great panels comes great responsibility: In pursuit of a well-evidenced age-based genomic screen oleh Ann Katherine Foreman, Jahnelle Jackson, Laura Milko, Elizabeth Branch, Neal deJong, Heidi Cope, Jessica Hunter, Elizabeth Jalazo, Julianne O'Daniel, Holly Peay, Bradford Powell, Cynthia Powell, Jonathan Berg

    Diterbitkan 2024-01-01
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  12. 12
    Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study

    Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study oleh Holly L. Peay, Angela You Gwaltney, Rebecca Moultrie, Heidi Cope, Beth Lincoln‐ Boyea, Katherine Ackerman Porter, Martin Duparc, Amir A. Alexander, Barbara B. Biesecker, Aminah Isiaq, Jennifer Check, Lisa Gehtland, Donald B. Bailey, Nancy M. P. King

    Diterbitkan 2022-05-01
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  13. 13
    Characteristics of undiagnosed diseases network applicants: implications for referring providers

    Characteristics of undiagnosed diseases network applicants: implications for referring providers oleh Nicole M. Walley, Loren D. M. Pena, Stephen R. Hooper, Heidi Cope, Yong-Hui Jiang, Allyn McConkie-Rosell, Camilla Sanders, Kelly Schoch, Rebecca C. Spillmann, Kimberly Strong, Alexa T. McCray, Paul Mazur, Cecilia Esteves, Kimberly LeBlanc, Undiagnosed Diseases Network, Anastasia L. Wise, Vandana Shashi

    Diterbitkan 2018-08-01
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  14. 14
    Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

    Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network oleh Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily Glanton, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi

    Diterbitkan 2020-10-01
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  15. 15
    Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

    Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy oleh Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

    Diterbitkan 2024-08-01
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