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1دورية أكاديمية
المؤلفون: Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Priya S. Kishnani
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: pompe disease, newborn screening, variant classification, functional studies, in vitro assay, lysosomal storage disease (LSD), Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Brooke A. Migliore, Linran Zhou, Martin Duparc, Veronica R. Robles, Catherine W. Rehder, Holly L. Peay, Katerina S. Kucera
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 1, p 12 (2022)
مصطلحات موضوعية: creatine kinase-MM, dried blood spots, Duchenne Muscular Dystrophy, newborn screening, assay performance, sample storage, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Katerina S. Kucera, Jennifer L. Taylor, Veronica R. Robles, Kristin Clinard, Brooke Migliore, Beth Lincoln Boyea, Katherine C. Okoniewski, Martin Duparc, Catherine W. Rehder, Scott M. Shone, Zheng Fan, Melissa Raspa, Holly L. Peay, Anne C. Wheeler, Cynthia M. Powell, Donald B. Bailey, Lisa M. Gehtland
المصدر: International Journal of Neonatal Screening, Vol 7, Iss 1, p 20 (2021)
مصطلحات موضوعية: newborn screening, spinal muscular atrophy, genetics, SMN1 gene, pilot study, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4
المؤلفون: Patrick R. Gonzales, Erica F. Andersen, Teneille R. Brown, Vanessa L. Horner, Juli Horwitz, Catherine W. Rehder, Natasha L. Rudy, Nathaniel H. Robin, Erik C. Thorland, null on behalf of the ACMG Laboratory Quality Assurance Committee
المصدر: Genetics in Medicine. 24:255-261
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f0e9c7eb14eb13d283176826af2fdc19
https://doi.org/10.1016/j.gim.2021.10.004 -
5دورية أكاديمية
المؤلفون: Suhrad G Banugaria, Sean N Prater, Trusha T Patel, Stephanie M DeArmey, Christie Milleson, Kathryn B Sheets, Deeksha S Bali, Catherine W Rehder, Julian A J Raiman, Raymond A Wang, Francois L
المصدر: Public Library of Science, PLOS ONE. 8(6):1-11