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pro vyhledávání: '"Jessica Chonis"'
Autor:
Joana Rita Chora, Margaret Chen, Lukáš Tichý, Sarah Leigh, Tomáš Freiberger, Michael A. Iacocca, Michal Kramarek, Robert A. Hegele, Hannah Wand, Cinthia E. Jannes, Liam R. Brunham, Heather Zimmermann, ClinGen Familial Hypercholesterolemia Expert Panel, Tami Johnston, Eric J.G. Sijbrands, Steve E. Humphries, Serra Kim, C. Lisa Kurtz, Alexandre C. Pereira, Mafalda Bourbon, Amanda J. Hooper, Jessica Chonis, Jian Wang, Mark Trinder, Joshua W. Knowles, Premysl Soucek, Maggie Williams, Annette Leon, Alain Carrié
Publikováno v:
Genetics in Medicine, 24(2), 293-306. Lippincott Williams & Wilkins
The online version of this article (https://doi.org/10.1016/j. gim.2021.09.012) contains supplementary material, which is available to authorized users. Purpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Associatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339fef96974d58015c82ac362e1f9381
https://hdl.handle.net/10400.18/8289
https://hdl.handle.net/10400.18/8289
Autor:
Tomáš Freiberger, Heather Zimmermann, Michael A. Iacocca, Lukas Tichy, Cinthia E. Jannes, Robert A. Hegele, Michal Kramarek, Alain Carrié, Alexandre C. Pereira, Sarah Leigh, Joana Rita Chora, Eric J.G. Sijbrands, Margaret Chen, Hannah Wand, Serra Kim, C. Lisa Kurtz, Tami Johnston, Amanda J. Hooper, Steve E. Humphries, Mark Trinder, Liam R. Brunham, Mafalda Bourbon, Jessica Chonis, Jian Wang, Joshua W. Knowles, Premysl Soucek, Maggie Williams, Annette Leon
PurposeIn 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for variant classification in Mendelian disorders. To increase accuracy and con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a865356915fa0402144210d466fbb6d2
https://doi.org/10.1101/2021.03.17.21252755
https://doi.org/10.1101/2021.03.17.21252755