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1دورية أكاديمية
المؤلفون: Luo, Xi, Maciaszek, Jamie L, Thompson, Bryony A, San Leong, Huei, Dixon, Katherine, Sousa, Sónia, Anderson, Michael, Roberts, Maegan E, Lee, Kristy, Spurdle, Amanda B, Mensenkamp, Arjen R, Brannan, Terra, Pardo, Carolina, Zhang, Liying, Pesaran, Tina, Wei, Sainan, Fasaye, Grace-Ann, Kesserwan, Chimene, Shirts, Brian H, Davis, Jeremy L, Oliveira, Carla, Plon, Sharon E, Schrader, Kasmintan A, Karam, Rachid
المصدر: Journal of Medical Genetics. 60(6)
مصطلحات موضوعية: Genetics, Cancer, Good Health and Well Being, Humans, Genetic Variation, Genetic Testing, Germ-Line Mutation, Stomach Neoplasms, Germ Cells, Antigens, CD, Cadherins, Genetic Predisposition to Disease, Gastrointestinal Diseases, Medical, ClinGen CDH1 Variant Curation Expert Panel, Genetics, Medical, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8ch25635
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2دورية أكاديمية
المؤلفون: Sharo, Andrew G.Aff1, Aff2, Aff3, IDs1307302301199y_cor1, Zou, YangyunAff2, Aff4, Aff5, Adhikari, Aashish N.Aff2, Aff4, Aff6, Brenner, Steven E.Aff1, Aff2, Aff4, IDs1307302301199y_cor4
المصدر: Genome Medicine. 15(1)
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3دورية أكاديمية
المؤلفون: Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L, Andrade, Kelvin C, Attardi, Laura D, Crowley, Stephanie, Evans, D Gareth, Feng, Bing‐Jian, Foreman, Ann KM, Frone, Megan N, Huether, Robert, James, Paul A, McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A, Slavin, Thomas P, Witkowski, Leora, Zhang, Liying, Plon, Sharon E, Spurdle, Amanda B, Savage, Sharon A, Panel, the ClinGen TP53 Variant Curation Expert
المصدر: Human Mutation. 42(3)
مصطلحات موضوعية: Human Genome, Prevention, Genetics, Cancer, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Genetic Testing, Genetic Variation, Germ Cells, Humans, Li-Fraumeni Syndrome, Tumor Suppressor Protein p53, United States, cancer, pathogenic variant, TP53, variant curation, ClinGen TP53 Variant Curation Expert Panel, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6r4715qg
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4دورية أكاديمية
المؤلفون: Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, Steven E. Brenner
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: ClinVar, HGMD, Pathogenic variant, Variant curation, Variant classification, Inborn errors of metabolism, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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5دورية أكاديمية
المؤلفون: Preston, Christine G., Wright, Matt W., Madhavrao, Rao, Harrison, Steven M., Goldstein, Jennifer L., Luo, Xi, Wand, Hannah, Wulf, Bryan, Cheung, Gloria, Mandell, Mark E., Tong, Howard, Cheng, Shaung, Iacocca, Michael A., Pineda, Arturo Lopez, Popejoy, Alice B., Dalton, Karen, Zhen, Jimmy, Dwight, Selina S., Babb, Lawrence, DiStefano, Marina, O’Daniel, Julianne M., Lee, Kristy, Riggs, Erin R., Zastrow, Diane B., Mester, Jessica L., Ritter, Deborah I., Patel, Ronak Y., Subramanian, Sai Lakshmi, Milosavljevic, Aleksander, Berg, Jonathan S., Rehm, Heidi L.Aff2, Aff13, Plon, Sharon E.Aff4, Aff12, Cherry, J. Michael, Bustamante, Carlos D.Aff6, Aff14, Costa, Helio A.Aff1, Aff6, IDs13073021010048_cor35
المصدر: Genome Medicine. 14(1)
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6دورية أكاديمية
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7دورية 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
Relation: https://doaj.org/toc/1756-994X
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8دورية أكاديمية
المؤلفون: Liana K. Billings, Zhuqing Shi, W. Kyle Resurreccion, Chi‐Hsiung Wang, Jun Wei, Toni I. Pollin, Miriam S. Udler, Jianfeng Xu
المصدر: Endocrinology, Diabetes & Metabolism, Vol 5, Iss 6, Pp n/a-n/a (2022)
مصطلحات موضوعية: diabetes genetics, maturity‐onset diabetes of the young, MODY, pathogenic variant, variant curation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2398-9238
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9دورية أكاديمية
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10دورية أكاديمية
المؤلفون: Mirshahi, Uyenlinh L.Aff1, Luo, Jonathan Z., Manickam, Kandamurugu, Wardeh, Amr H., Mirshahi, Tooraj, Murray, Michael F., Carey, David J.
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(6):1417-1424