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

M Barge

Showing results (121-130 of 133) with videos related to

Pageof 14
Sort By:
Circulation. Genomic and Precision Medicine|May 22, 2019
Mortality Risk Associated With Truncating Founder Mutations in TitinMark Jansen, Annette F Baas, Karin Y van Spaendonck-Zwarts, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
Journal of Neuromuscular Diseases|May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceDineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
American Heart Journal|June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variantsJohanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2018
Correction: Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
Pageof 14

Showing results (121-130 of 133) with videos related to

Sort By:
Pageof 14
Circulation. Genomic and Precision Medicine|May 22, 2019
Mortality Risk Associated With Truncating Founder Mutations in TitinMark Jansen, Annette F Baas, Karin Y van Spaendonck-Zwarts, et al.
Human Mutation|March 1, 2020
A mutation update for the FLNC gene in myopathies and cardiomyopathiesJob A J Verdonschot, Els K Vanhoutte, Godelieve R F Claes, et al.
Journal of Neuromuscular Diseases|May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceDineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
American Heart Journal|June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variantsJohanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2018
Correction: Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Journal of Medical Genetics|March 2, 2022
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndromeMarco Angelozzi, Anirudha Karvande, Arnaud N Molin, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
Pageof 14