תוצאות חיפוש - Ingrid A. Holm
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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... מאת Lynn Wein Bush, Louis Bartoshesky, Karen L. David, Benjamin S. Wilfond, Janet L. Williams, Ingrid A. Holm
יצא לאור 2018Artigo -
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Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board מאת Ingrid A. Holm, Sarah Savage, Robert C. Green, Eric T. Juengst, Amy L. McGuire, Susan Kornetsky, Stephanie J. Brewster, Steven Joffe, Patrick Taylor
יצא לאור 2014Artigo -
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The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository מאת Erin D. Harris, Sonja I. Ziniel, Jonathan G. Amatruda, Catherine Clinton, Sarah Savage, Patrick L. Taylor, Noelle Huntington, Robert C. Green, Ingrid A. Holm
יצא לאור 2012Artigo -
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A systematic literature review of individuals’ perspectives on broad consent and data sharing in the United States מאת 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
יצא לאור 2015Artigo -
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Rethinking the “open future” argument against predictive genetic testing of children מאת 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
יצא לאור 2019Artigo -
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Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project מאת 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
יצא לאור 2019Artigo -
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A curated gene list for reporting results of newborn genomic sequencing מאת 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
יצא לאור 2017Artigo -
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Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) מאת 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
יצא לאור 2018Artigo -
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Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents מאת 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
יצא לאור 2015Revisão -
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Genetic Determinants of Sudden Unexpected Death in Pediatrics מאת 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
יצא לאור 2022Artigo -
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Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1 מאת 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
יצא לאור 1998Artigo -
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EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children מאת 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
יצא לאור 2013Artigo -
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia מאת 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
יצא לאור 2009Artigo
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Genetic testing
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Exome sequencing
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