Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Heidi L Rehm

Showing results (71-80 of 342) with videos related to

Pageof 35
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvementAnnie Niehaus, Danielle R Azzariti, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significanceLauren N Galbraith, Charlene L Preys, Heidi L Rehm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 27, 2021
Evaluating the impact of in silico predictors on clinical variant classificationEmma H Wilcox, Mahdi Sarmady, Bryan Wulf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registryJuliann M Savatt, Danielle R Azzariti, David H Ledbetter, et al.
Clinical Chemistry|January 18, 2018
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using StereocilinSami S Amr, Elissa Murphy, Elizabeth Duffy, et al.
Molecular Biology Reports|November 7, 2013
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7ASalma Ben-Salem, Heidi L Rehm, Patrick J Willems, et al.
BMC Biotechnology|February 12, 2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarraysPrachi Kothiyal, Stephanie Cox, Jonathan Ebert, et al.
Nature Biotechnology|February 9, 2011
MutaDATABASE: a centralized and standardized DNA variation databaseSherri Bale, Martijn Devisscher, Wim Van Criekinge, et al.
Human Mutation|September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterionAhmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.
Kidney360|April 4, 2022
From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient SettingAndrew L Lundquist, Renee C Pelletier, Courtney E Leonard, et al.
Pageof 35

Showing results (71-80 of 342) with videos related to

Sort By:
Pageof 35
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvementAnnie Niehaus, Danielle R Azzariti, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significanceLauren N Galbraith, Charlene L Preys, Heidi L Rehm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 27, 2021
Evaluating the impact of in silico predictors on clinical variant classificationEmma H Wilcox, Mahdi Sarmady, Bryan Wulf, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2021
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registryJuliann M Savatt, Danielle R Azzariti, David H Ledbetter, et al.
Clinical Chemistry|January 18, 2018
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using StereocilinSami S Amr, Elissa Murphy, Elizabeth Duffy, et al.
Molecular Biology Reports|November 7, 2013
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7ASalma Ben-Salem, Heidi L Rehm, Patrick J Willems, et al.
BMC Biotechnology|February 12, 2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarraysPrachi Kothiyal, Stephanie Cox, Jonathan Ebert, et al.
Nature Biotechnology|February 9, 2011
MutaDATABASE: a centralized and standardized DNA variation databaseSherri Bale, Martijn Devisscher, Wim Van Criekinge, et al.
Human Mutation|September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterionAhmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.
Kidney360|April 4, 2022
From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient SettingAndrew L Lundquist, Renee C Pelletier, Courtney E Leonard, et al.
Pageof 35