検索結果 - Ingrid A. Holm

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  1. 1
    A clinician's guide to X-linked hypophosphatemia

    A clinician's guide to X-linked hypophosphatemia 著者: Thomas O. Carpenter, Erik A. Imel, Ingrid A. Holm, Suzanne M. Jan de Beur, Karl Insogna

    出版事項 2011
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    Revisão
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  2. 2
    Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

    Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the Am... 著者: Lynn Wein Bush, Louis Bartoshesky, Karen L. David, Benjamin S. Wilfond, Janet L. Williams, Ingrid A. Holm

    出版事項 2018
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    Artigo
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  3. 3
    Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project

    Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project 著者: Ingrid A. Holm, Amy L. McGuire, Stacey Pereira, Heidi L. Rehm, Robert C. Green, Alan H. Beggs

    出版事項 2019
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    Artigo
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  4. 4
    Parents are interested in newborn genomic testing during the early postpartum period

    Parents are interested in newborn genomic testing during the early postpartum period 著者: Susan E. Waisbren, Danielle K. Bäck, Christina Liu, Sarah S. Kalia, Steven A. Ringer, Ingrid A. Holm, Robert C. Green

    出版事項 2014
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    Artigo
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  5. 5
    Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets

    Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets 著者: Ingrid A. Holm, Anne E. Nelson, Bruce G. Robinson, Rebecca S. Mason, Deborah J. Marsh, Christopher T. Cowell, Thomas O. Carpenter

    出版事項 2001
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    Artigo
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  6. 6
    Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

    Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board 著者: Ingrid A. Holm, Sarah Savage, Robert C. Green, Eric T. Juengst, Amy L. McGuire, Susan Kornetsky, Stephanie J. Brewster, Steven Joffe, Patrick Taylor

    出版事項 2014
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    Artigo
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  7. 7
    Physicians’ perspectives on receiving unsolicited genomic results

    Physicians’ perspectives on receiving unsolicited genomic results 著者: Douglas Pet, Ingrid A. Holm, Janet L. Williams, Melanie F. Myers, Laurie L. Novak, Kyle B. Brothers, Georgia L. Wiesner, Ellen Wright Clayton

    出版事項 2018
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    Artigo
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  8. 8
    The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository

    The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository 著者: Erin D. Harris, Sonja I. Ziniel, Jonathan G. Amatruda, Catherine Clinton, Sarah Savage, Patrick L. Taylor, Noelle Huntington, Robert C. Green, Ingrid A. Holm

    出版事項 2012
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    Artigo
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  9. 9
    Hypervitaminosis D Associated with Drinking Milk

    Hypervitaminosis D Associated with Drinking Milk 著者: Claire H. Jacobus, Michael F. Holick, Qing Shao, Tai C. Chen, Ingrid A. Holm, Jonathan M. Kolodny, Ghada El‐Hajj Fuleihan, Ellen W. Seely

    出版事項 1992
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    Artigo
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  10. 10
    A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States

    A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States 著者: Nanibaa’ A. Garrison, Nila A Sathe, Armand H. Matheny Antommaria, Ingrid A. Holm, Saskia C. Sanderson, Maureen E. Smith, Melissa L McPheeters, Ellen Wright Clayton

    出版事項 2015
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    Artigo
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  11. 11
    Advancing Understanding of Inequities in Rare Disease Genomics

    Advancing Understanding of Inequities in Rare Disease Genomics 著者: Jillian Serrano, Melanie O’Leary, Grace E. VanNoy, Brian Mangilog, Ingrid A. Holm, Yarden S. Fraiman, Heidi L. Rehm, Anne O’Donnell‐Luria, Monica H. Wojcik

    出版事項 2023
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    Artigo
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  12. 12
    Rethinking the “open future” argument against predictive genetic testing of children

    Rethinking the “open future” argument against predictive genetic testing of children 著者: Jeremy R. Garrett, John D. Lantos, Leslie G. Biesecker, Janet E. Childerhose, Wendy K. Chung, Ingrid A. Holm, Barbara A. Koenig, Jean E. McEwen, Benjamin S. Wilfond, Kyle B. Brothers

    出版事項 2019
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    Artigo
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  13. 13
    Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

    Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project 著者: Stacey Pereira, Jill O. Robinson, Amanda M. Gutierrez, Devan Petersen, Rebecca L. Hsu, Caroline H. Lee, Talia S. Schwartz, Ingrid A. Holm, Alan H. Beggs, Robert C. Green, Amy L. McGuire

    出版事項 2019
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    Artigo
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  14. 14
    A curated gene list for reporting results of newborn genomic sequencing

    A curated gene list for reporting results of newborn genomic sequencing 著者: Ozge Ceyhan‐Birsoy, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Alan H. Beggs, Heidi L. Rehm

    出版事項 2017
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    Artigo
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  15. 15
    Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

    Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) 著者: Karen L. David, Robert G. Best, Leslie Manace Brenman, Lynn Wein Bush, Joshua L. Deignan, David B. Flannery, Jodi D. Hoffman, Ingrid A. Holm, David T. Miller, James O’Leary, Reed E. Pyeritz

    出版事項 2018
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    Artigo
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  16. 16
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents 著者: Jeffrey R. Botkin, John W. Belmont, Jonathan S. Berg, Benjamin E. Berkman, Yvonne Bombard, Ingrid A. Holm, Howard P. Levy, Kelly E. Ormond, Howard M. Saal, Nancy B. Spinner, Benjamin S. Wilfond, Joseph D. McInerney

    出版事項 2015
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    Revisão
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  17. 17
    Genetic Determinants of Sudden Unexpected Death in Pediatrics

    Genetic Determinants of Sudden Unexpected Death in Pediatrics 著者: Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Sanda Alexandrescu, Erin Plews-Ogan, Elisabeth A. Haas, Catherine A. Brownstein, Sara O. Vargas, Robin L. Haynes, Gerard T. Berry, Ingrid A. Holm, Annapurna Poduri, Richard D. Goldstein

    出版事項 2022
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    Artigo
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  18. 18
    Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1

    Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1 著者: Peter H. Dixon, Paul T. Christie, C Wooding, Dorothy Trump, Marvin Grieff, Ingrid A. Holm, Joseph M. Gertner, Jörg Schmidtke, Binita Shah, Nicholas Shaw, Colin Smith, Christina Tau, David Schlessinger, Michael P. Whyte, Rajesh V. Thakker

    出版事項 1998
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    Artigo
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  19. 19
    EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

    EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children 著者: Bahram Namjou, Mehdi Keddache, Keith Marsolo, Michael Wagner, Todd Lingren, Beth L. Cobb, Cassandra Perry, Stephanie Kennebeck, Ingrid A. Holm, Rongling Li, Nancy A. Crimmins, Lisa J. Martin, Imre Solti, Isaac S. Kohane, John B. Harley

    出版事項 2013
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    Artigo
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  20. 20
    Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

    Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia 著者: Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara Funari, Carlos A. Bacino, Mira Irons, Ingrid A. Holm, Laurie S. Sadler, Ericka Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn

    出版事項 2009
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    Artigo
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