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Showing results (171-180 of 176) with videos related to

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American Journal of Human Genetics|August 14, 2018
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research CohortMarci L B Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Science (New York, N.Y.)|December 24, 2016
Genetic identification of familial hypercholesterolemia within a single U.S. health care systemNoura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, et al.
JAMA Network Open|January 16, 2019
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank ParticipantsKandamurugu Manickam, Adam H Buchanan, Marci L B Schwartz, et al.
Science (New York, N.Y.)|December 24, 2016
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR studyFrederick E Dewey, Michael F Murray, John D Overton, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
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Showing results (171-180 of 176) with videos related to

Sort By:
Pageof 18
You have reached the last page of results.This site can display upto 176 results.
American Journal of Human Genetics|August 14, 2018
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research CohortMarci L B Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Science (New York, N.Y.)|December 24, 2016
Genetic identification of familial hypercholesterolemia within a single U.S. health care systemNoura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, et al.
JAMA Network Open|January 16, 2019
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank ParticipantsKandamurugu Manickam, Adam H Buchanan, Marci L B Schwartz, et al.
Science (New York, N.Y.)|December 24, 2016
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR studyFrederick E Dewey, Michael F Murray, John D Overton, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 18