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John Burn
Michael Watson

Human mutation

Showing results (1-10 of 9) with videos related to

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Human Mutation|March 19, 2016
The Human Variome ProjectJohn Burn, Michael Watson
Human Mutation|September 1, 2019
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnosticsRichard Gallon, Harsh Sheth, Christine Hayes, et al.
Human Mutation|October 21, 2010
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010Maija R J Kohonen-Corish, Jumana Y Al-Aama, Arleen D Auerbach, et al.
Human Mutation|March 10, 2011
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010Maija R J Kohonen-Corish, Finlay Macrae, Maurizio Genuardi, et al.
Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Human Mutation|July 4, 2012
Human Variome Project country nodes: documenting genetic information within a countryGeorge P Patrinos, Timothy D Smith, Heather Howard, et al.
Human Mutation|March 24, 2009
Planning the human variome project: the Spain reportJim Kaput, Richard G H Cotton, Lauren Hardman, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Human Mutation|March 19, 2016
The Human Variome ProjectJohn Burn, Michael Watson
Human Mutation|September 1, 2019
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnosticsRichard Gallon, Harsh Sheth, Christine Hayes, et al.
Human Mutation|October 21, 2010
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010Maija R J Kohonen-Corish, Jumana Y Al-Aama, Arleen D Auerbach, et al.
Human Mutation|March 10, 2011
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010Maija R J Kohonen-Corish, Finlay Macrae, Maurizio Genuardi, et al.
Human Mutation|February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytesRichard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Human Mutation|July 4, 2012
Human Variome Project country nodes: documenting genetic information within a countryGeorge P Patrinos, Timothy D Smith, Heather Howard, et al.
Human Mutation|March 24, 2009
Planning the human variome project: the Spain reportJim Kaput, Richard G H Cotton, Lauren Hardman, et al.
Pageof 1