Hakutulokset - 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 Tekijä Thomas O. Carpenter, Erik A. Imel, Ingrid A. Holm, Suzanne M. Jan de Beur, Karl Insogna

    Julkaistu 2011
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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... Tekijä Lynn Wein Bush, Louis Bartoshesky, Karen L. David, Benjamin S. Wilfond, Janet L. Williams, Ingrid A. Holm

    Julkaistu 2018
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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 Tekijä Ingrid A. Holm, Amy L. McGuire, Stacey Pereira, Heidi L. Rehm, Robert C. Green, Alan H. Beggs

    Julkaistu 2019
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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 Tekijä Susan E. Waisbren, Danielle K. Bäck, Christina Liu, Sarah S. Kalia, Steven A. Ringer, Ingrid A. Holm, Robert C. Green

    Julkaistu 2014
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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 Tekijä Ingrid A. Holm, Anne E. Nelson, Bruce G. Robinson, Rebecca S. Mason, Deborah J. Marsh, Christopher T. Cowell, Thomas O. Carpenter

    Julkaistu 2001
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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 Tekijä Ingrid A. Holm, Sarah Savage, Robert C. Green, Eric T. Juengst, Amy L. McGuire, Susan Kornetsky, Stephanie J. Brewster, Steven Joffe, Patrick Taylor

    Julkaistu 2014
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  7. 7
    Physicians’ perspectives on receiving unsolicited genomic results

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

    Julkaistu 2018
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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 Tekijä Erin D. Harris, Sonja I. Ziniel, Jonathan G. Amatruda, Catherine Clinton, Sarah Savage, Patrick L. Taylor, Noelle Huntington, Robert C. Green, Ingrid A. Holm

    Julkaistu 2012
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  9. 9
    Hypervitaminosis D Associated with Drinking Milk

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

    Julkaistu 1992
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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 Tekijä 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

    Julkaistu 2015
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  11. 11
    Advancing Understanding of Inequities in Rare Disease Genomics

    Advancing Understanding of Inequities in Rare Disease Genomics Tekijä 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

    Julkaistu 2023
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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 Tekijä 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

    Julkaistu 2019
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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 Tekijä 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

    Julkaistu 2019
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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 Tekijä 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

    Julkaistu 2017
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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) Tekijä 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

    Julkaistu 2018
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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 Tekijä 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

    Julkaistu 2015
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  17. 17
    Genetic Determinants of Sudden Unexpected Death in Pediatrics

    Genetic Determinants of Sudden Unexpected Death in Pediatrics Tekijä 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

    Julkaistu 2022
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  18. 18
    Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1

    Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1 Tekijä 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

    Julkaistu 1998
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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 Tekijä 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

    Julkaistu 2013
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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 Tekijä 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

    Julkaistu 2009
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