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1دورية أكاديمية
المؤلفون: Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Amy J. Turner, Cyrine E. Haidar, Wenjian Yang, Erin C. Boone, Steven M. Offer, Philip E. Empey, Andrew Haddad, Saba Tahir, Gunter Scharer, Ulrich Broeckel, Andrea Gaedigk
المصدر: Clinical and Translational Science, Vol 17, Iss 1, Pp n/a-n/a (2024)
مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Amy J. Turner, Ashley D. Derezinski, Andrea Gaedigk, Mark E. Berres, David B. Gregornik, Keith Brown, Ulrich Broeckel, Gunter Scharer
المصدر: Frontiers in Pharmacology, Vol 14 (2023)
مصطلحات موضوعية: CYP2D6, pharmacogenetics, PCR-free, clinical testing, CRISPR, single-molecule long-read sequencing, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5
المؤلفون: M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil S. Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe
المصدر: The Journal of Molecular Diagnostics. 25:175-188
مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine
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6
المؤلفون: Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P. Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark Kiel, Lucita Van Der Kraan, Chad Krilow, Yong H. Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sebastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory J. Owen, George Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal S. Mehtalia, Albert Oriol, Stavros Papadopoulos, James Perry, Edwin Rosales, Erica Sanford, Steve Schwartz, Duke Tran, Martin G. Reese, Meredith Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary J. Willis, Aaron R. Wolen, Thomas Defay.
المصدر: American journal of human genetics, vol 109, iss 9
مصطلحات موضوعية: clinical decision support, UK Biobank, diagnosis, Critical Illness, clinical utility, specificity, rapid whole-genome sequencing, Medical and Health Sciences, Neonatal Screening, Rare Diseases, genetic disease, Clinical Research, Genetics, Humans, Genetic Testing, Precision Medicine, Child, Genetics (clinical), Retrospective Studies, Pediatric, Genetics & Heredity, virtual management guidance, newborn screening, Prevention, diagnostic odyssey, Human Genome, Infant, Newborn, Infant, Perinatal Period - Conditions Originating in Perinatal Period, Biological Sciences, Newborn, sensitivity, gene therapy, orphan drug, Brain Disorders, Good Health and Well Being
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e5398764608d2c19993194c7d957e0
https://doi.org/10.1016/j.ajhg.2022.08.003 -
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المؤلفون: Rupa Udani, Kala F. Schilter, Rebecca C. Tyler, Brandon A. Smith, Jaime L. Wendt-Andrae, Ulrike P. Kappes, Gunter Scharer, Anna Lehman, Michelle Steinraths, Honey V. Reddi
المصدر: Journal of Genetics. 102
مصطلحات موضوعية: Genetics
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8
المؤلفون: Ulrich Broeckel, M. Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L. Nagy, Gunter Scharer, Aaron D. Bossler, Vanessa Rodriguez, Aaron Stence, Cindy Skinner, Steven A Skinner, Ravindra Kolhe, Roger Stevenson
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::047b9c7eedb0e6d1102f3cd6872530c2
https://doi.org/10.1101/2022.12.26.22283900 -
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المؤلفون: M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe
المصدر: Cancer Genetics. :2-3
مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology
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10
المؤلفون: M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stevenson, Aaron Bossler, Peter L. Nagy, Ravindra Kolhe
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5a195f5bf0acac07a36951fc359e8a0c
https://doi.org/10.1101/2021.12.27.21268432