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1دورية أكاديمية
المؤلفون: Owen R. Hirschi, Stephanie A. Felker, Surya P. Rednam, Kelly L. Vallance, D. Williams Parsons, Angshumoy Roy, Gregory M. Cooper, Sharon E. Plon
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101850- (2024)
مصطلحات موضوعية: Intronic, RNA, Splicing, Synonymous, Variant Classification, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424009968Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa, on behalf of the Clinical Genome Resource (ClinGen)
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Variant curation, Precision medicine, Clinical genetics, Clinical Genome Resource Consortium, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية أكاديمية
المؤلفون: Ninad Oak, Andrew D. Cherniack, R. Jay Mashl, TCGA Analysis Network, Fred R. Hirsch, Li Ding, Rameen Beroukhim, Zeynep H. Gümüş, Sharon E. Plon, Kuan-lin Huang
المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-15 (2020)
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-020-00744-3Test; https://doaj.org/toc/1756-994XTest
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4دورية أكاديمية
المؤلفون: Rajarshi Ghosh, Ninad Oak, Sharon E. Plon
المصدر: Genome Biology, Vol 18, Iss 1, Pp 1-12 (2017)
مصطلحات موضوعية: Variant interpretation, In silico algorithm, ROC, ClinVar, ACMG, Clinical genetics, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13059-017-1353-5Test; https://doaj.org/toc/1474-760XTest
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5دورية أكاديمية
المؤلفون: Ninad Oak, Sharon E. Plon
المصدر: Genome Biology, Vol 19, Iss 1, Pp 1-3 (2018)
مصطلحات موضوعية: Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13059-018-1542-xTest; https://doaj.org/toc/1474-760XTest
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6دورية أكاديمية
المؤلفون: Rebecca L. Hsu, Amanda M. Gutierrez, Sophie K. Schellhammer, Jill O. Robinson, Sarah Scollon, Richard L. Street, Alyssa N. Salisbury, Stacey Pereira, Sharon E. Plon, Janet Malek, D. Williams Parsons, Amy L. McGuire
المصدر: Journal of Personalized Medicine, Vol 11, Iss 6, p 570 (2021)
مصطلحات موضوعية: pediatric genomics, return of genomic results, communication, pediatric oncology, exome sequencing, genetic counseling, Medicine
وصف الملف: electronic resource
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7دورية أكاديمية
المصدر: Journal of Clinical Medicine, Vol 10, Iss 9, p 2028 (2021)
مصطلحات موضوعية: pediatric cancer, epidemiology, genetic susceptibility, cancer predisposition, Medicine
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan, on behalf of the ClinGen Somatic Cancer Working Group
المصدر: Genome Medicine, Vol 8, Iss 1, Pp 1-9 (2016)
مصطلحات موضوعية: Cancer genomics, Somatic variant interpretation, Data standard, Somatic variant curation, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13073-016-0367-zTest; https://doaj.org/toc/1756-994XTest
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9دورية أكاديمية
المؤلفون: Natalia Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer L. Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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10
المؤلفون: Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam
المصدر: Journal of Medical Genetics, 60, 568-575
Journal of Medical Genetics, 60, 6, pp. 568-575مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b92564af059677ad97db8e84364c32acTest
https://hdl.handle.net/2066/293518Test