Bilaketaren emaitzak - Nina B. Gold

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  1. 1
    Anatomic and etiological classification of congenital limb deficiencies

    Anatomic and etiological classification of congenital limb deficiencies nork Nina B. Gold, Marie‐Noel Westgate, Lewis B. Holmes

    Argitaratua 2011
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  2. 2
    Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

    Aggregate penetrance of genomic variants for actionable disorders in European and African Americans nork Pradeep Natarajan, Nina B. Gold, Alexander G. Bick, Heather M. McLaughlin, Peter Kraft, Heidi L. Rehm, Gina M. Peloso, James G. Wilson, Adolfo Correa, Jonathan G. Seidman, Christine E. Seidman, Sekar Kathiresan, Robert C. Green

    Argitaratua 2016
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  3. 3
    Are we prepared to deliver gene‐targeted therapies for rare diseases?

    Are we prepared to deliver gene‐targeted therapies for rare diseases? nork Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi C. MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Philip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv

    Argitaratua 2023
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  4. 4
    Targeted exome sequencing of suspected mitochondrial disorders

    Targeted exome sequencing of suspected mitochondrial disorders nork Daniel S. Lieber, Sarah E. Calvo, Kristy Shanahan, Nancy G. Slate, Shangtao Liu, Steven G. Hershman, Nina B. Gold, Brad Chapman, David R. Thorburn, Gerard T. Berry, Jeremy D. Schmahmann, Mark L. Borowsky, David M. Mueller, Katherine B. Sims, Vamsi K. Mootha

    Argitaratua 2013
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  5. 5
    Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

    Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield nork Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan M. Stoler, Richard B. Parad, S. A. Roumiantsev, Olaf A. Bodamer, Alan H. Beggs, Jane Juusola, Pankaj B. Agrawal, Timothy W. Yu

    Argitaratua 2019
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  6. 6
    Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs

    Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs nork Thomas Minten, Nina B. Gold, Sarah K. Bick, Sophia Adelson, Nils Gehlenborg, Laura M. Amendola, François Boemer, Alison J. Coffey, Nicolas Encina, Alessandra Ferlini, Janbernd Kirschner, Bianca Russell, Laurent Servais, Kristen L. Sund, Ryan J. Taft, Petros Tsipouras, Hana Zouk, David Bick, Robert C. Green

    Argitaratua 2024
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  7. 7
    Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

    Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization nork Carrie L. Blout Zawatsky, Nidhi Shah, Kalotina Machini, Emma Perez, Kurt D. Christensen, Hana Zouk, Marcie Steeves, Christopher Koch, Melissa Kurtz Uveges, Janelle Shea, Nina B. Gold, Joel B. Krier, Natalie Boutin, Lisa Mahanta, Heidi L. Rehm, Scott T. Weiss, Elizabeth W. Karlson, Jordan W. Smoller, Matthew S. Lebo, Robert C. Green

    Argitaratua 2021
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  8. 8
    Perspectives of Rare Disease Experts on Newborn Genome Sequencing

    Perspectives of Rare Disease Experts on Newborn Genome Sequencing nork Nina B. Gold, Sophia Adelson, Nidhi Shah, Shardae Williams, Sarah L. Bick, Emilie S. Zoltick, Jessica I. Gold, Alanna Strong, Rebecca Ganetzky, Amy E. Roberts, Melissa Walker, Alexander M. Holtz, Vijay G. Sankaran, Ottavia M. Delmonte, Weizhen Tan, Ingrid A. Holm, Jay R. Thiagarajah, Junne Kamihara, Jason Comander, Emily Place, Janey L. Wiggs, Robert C. Green

    Argitaratua 2023
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  9. 9
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder nork Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Argitaratua 2019
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  10. 10
    Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

    Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt nork James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan, David J. Amor, Siddharth Banka, Donald Basel, Laura D. Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton‐Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P. Gilfillan, Nina B. Gold, Karen W. Gripp, Emma Hobson, Alexander M. Holtz, A. Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Sébastien Küry, François Lecoquierre, Paul J. Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H. Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E. Posey, Rhonda E. Schnur, Marie Shaw, Elliot Stolerman, Julie P. Taylor, Erin Wadman, Emma Wakeling, Susan M. White, Lawrence C. Wong, James R. Lupski, Olivier Lichtarge, Mark Corbett, Jozef Gécz, Charles M. Nicolet, Peggy Farnham, Cheol‐Hee Kim, Marwan Shinawi

    Argitaratua 2024
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  11. 11
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome nork Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    Argitaratua 2021
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