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pro vyhledávání: '"Eric, Minikel"'
Autor:
Eric Minikel Vallabh, Sonia M Vallabh
Publikováno v:
Brain. 146:2206-2207
This scientific commentary refers to ‘Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease’ by Mok et al. (https://doi.org/10.1093/brain/awad101).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0576f6c1362edf16d51e3b701b608d81
https://doi.org/10.1093/brain/awad143
https://doi.org/10.1093/brain/awad143
Akademický článek
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Autor:
Nicola, Whiffin, Eric, Minikel, Roddy, Walsh, Anne H, O'Donnell-Luria, Konrad, Karczewski, Alexander Y, Ing, Paul J R, Barton, Birgit, Funke, Stuart A, Cook, Daniel, MacArthur, James S, Ware
Publikováno v:
Genetics in Medicine
Purpose Whole-exome and whole-genome sequencing have transformed the discovery of genetic variants that cause human Mendelian disease, but discriminating pathogenic from benign variants remains a daunting challenge. Rarity is recognized as a necessar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4c49005d2466906b90cb84d38bc954c
https://pubmed.ncbi.nlm.nih.gov/28518168
https://pubmed.ncbi.nlm.nih.gov/28518168
Publikováno v:
Brain: A Journal of Neurology; Jun2023, Vol. 146 Issue 6, p2206-2207, 2p
Autor:
Vallabh EM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Prion Alliance, Cambridge, MA 02139, USA.; Henry and Allison McCance Center for Brain Health, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Vallabh SM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Prion Alliance, Cambridge, MA 02139, USA.; Henry and Allison McCance Center for Brain Health, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Jun 01; Vol. 146 (6), pp. 2206-2207.