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Heidi L Rehm

Showing results (121-130 of 342) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri Bale, et al.
The Journal of Molecular Diagnostics : JMD|January 6, 2019
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic TestingStephen E Lincoln, Rebecca Truty, Chiao-Feng Lin, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutationsSamuel G Jacobson, Tomas S Aleman, Alexander Sumaroka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Response to Biesecker and HarrisonC Sue Richards, Nazneen Aziz, Sherri Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing lossRaye L Alford, Kathleen S Arnos, Michelle Fox, et al.
Human Mutation|March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingErin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.
The Journal of Molecular Diagnostics : JMD|September 25, 2010
Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applicationsSivakumar Gowrisankar, Jordan P Lerner-Ellis, Stephanie Cox, et al.
Cancer Discovery|November 4, 2015
All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and HealthMark Lawler, Lillian L Siu, Heidi L Rehm, et al.
Nature Genetics|October 2, 2024
Standardizing variant naming in literature with VariantValidator to increase diagnostic ratesPeter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
Pageof 35

Showing results (121-130 of 342) with videos related to

Sort By:
Pageof 35
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri Bale, et al.
The Journal of Molecular Diagnostics : JMD|January 6, 2019
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic TestingStephen E Lincoln, Rebecca Truty, Chiao-Feng Lin, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutationsSamuel G Jacobson, Tomas S Aleman, Alexander Sumaroka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Response to Biesecker and HarrisonC Sue Richards, Nazneen Aziz, Sherri Bale, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing lossRaye L Alford, Kathleen S Arnos, Michelle Fox, et al.
Human Mutation|March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingErin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.
The Journal of Molecular Diagnostics : JMD|September 25, 2010
Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applicationsSivakumar Gowrisankar, Jordan P Lerner-Ellis, Stephanie Cox, et al.
Cancer Discovery|November 4, 2015
All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and HealthMark Lawler, Lillian L Siu, Heidi L Rehm, et al.
Nature Genetics|October 2, 2024
Standardizing variant naming in literature with VariantValidator to increase diagnostic ratesPeter J Freeman, John F Wagstaff, Ivo F A C Fokkema, et al.
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