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Heidi L Rehm

Showing results (61-70 of 342) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretationSami S Amr, Saeed H Al Turki, Matthew Lebo, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine ServiceEleanor G Seaby, N Simon Thomas, David Hunt, et al.
American Journal of Medical Genetics. Part A|April 25, 2007
Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?Margaret A Kenna, Heidi L Rehm, Caroline D Robson, et al.
Nature Methods|June 23, 2009
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detectionDaniel S Herman, G Kees Hovingh, Oleg Iartchouk, et al.
Medrxiv : the Preprint Server for Health Sciences|June 3, 2024
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease lociLaurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2021
The intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell SymposiumSonja A Rasmussen, Noura S Abul-Husn, Jean-Laurent Casanova, et al.
Archives of Otolaryngology--Head & Neck Surgery|January 20, 2010
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing lossMargaret A Kenna, Henry A Feldman, Marilyn W Neault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2019
The case for implementing sustainable routine, population-level genomic reanalysisChristine Y Lu, Rachele M Hendricks-Sturrup, Kathleen M Mazor, et al.
European Journal of Medical Genetics|April 16, 2018
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variantsChristina A Austin-Tse, Diana L Mandelker, Andrea M Oza, et al.
The Journal of Molecular Diagnostics : JMD|August 13, 2021
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative ProjectEmma Wilcox, Steven M Harrison, Edward Lockhart, et al.
Pageof 35

Showing results (61-70 of 342) with videos related to

Sort By:
Pageof 35
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretationSami S Amr, Saeed H Al Turki, Matthew Lebo, et al.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine ServiceEleanor G Seaby, N Simon Thomas, David Hunt, et al.
American Journal of Medical Genetics. Part A|April 25, 2007
Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?Margaret A Kenna, Heidi L Rehm, Caroline D Robson, et al.
Nature Methods|June 23, 2009
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detectionDaniel S Herman, G Kees Hovingh, Oleg Iartchouk, et al.
Medrxiv : the Preprint Server for Health Sciences|June 3, 2024
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease lociLaurel Hiatt, Ben Weisburd, Egor Dolzhenko, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2021
The intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell SymposiumSonja A Rasmussen, Noura S Abul-Husn, Jean-Laurent Casanova, et al.
Archives of Otolaryngology--Head & Neck Surgery|January 20, 2010
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing lossMargaret A Kenna, Henry A Feldman, Marilyn W Neault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2019
The case for implementing sustainable routine, population-level genomic reanalysisChristine Y Lu, Rachele M Hendricks-Sturrup, Kathleen M Mazor, et al.
European Journal of Medical Genetics|April 16, 2018
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variantsChristina A Austin-Tse, Diana L Mandelker, Andrea M Oza, et al.
The Journal of Molecular Diagnostics : JMD|August 13, 2021
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative ProjectEmma Wilcox, Steven M Harrison, Edward Lockhart, et al.
Pageof 35