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Showing results (211-220 of 245) with videos related to

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Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|February 3, 2021
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and statusM Jansen, I Christiaans, S N van der Crabben, et al.
Journal of Cardiovascular Translational Research|June 6, 2023
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant CarriersMark Jansen, A F Schmidt, J J M Jans, et al.
Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
Journal of the American College of Cardiology|May 20, 2023
Individualized Family Screening for Arrhythmogenic Right Ventricular CardiomyopathySteven A Muller, Alessio Gasperetti, Laurens P Bosman, et al.
International Journal of Cardiology|April 13, 2025
Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variantE van Drie, J D H Jongbloed, E Hoorntje, et al.
International Journal of Molecular Sciences|February 25, 2023
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of <i>MYBPC3</i> Founder VariantsMark Jansen, Maike Schuldt, Beau O van Driel, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countriesD Chandler, D Angelicheva, L Heather, et al.
Human Mutation|June 17, 2018
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disordersEline Overwater, Luisa Marsili, Marieke J H Baars, et al.
JACC. Heart Failure|August 11, 2023
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort StudyMark Jansen, Remco de Brouwer, Fahima Hassanzada, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|August 12, 2020
Strength of patient cohorts and biobanks for cardiomyopathy researchR A de Boer, L L A M Nijenkamp, H H W Silljé, et al.
Pageof 25

Showing results (211-220 of 245) with videos related to

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Pageof 25
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|February 3, 2021
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and statusM Jansen, I Christiaans, S N van der Crabben, et al.
Journal of Cardiovascular Translational Research|June 6, 2023
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant CarriersMark Jansen, A F Schmidt, J J M Jans, et al.
Journal of Medical Genetics|September 13, 2005
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneM C J Jongmans, R J Admiraal, K P van der Donk, et al.
Journal of the American College of Cardiology|May 20, 2023
Individualized Family Screening for Arrhythmogenic Right Ventricular CardiomyopathySteven A Muller, Alessio Gasperetti, Laurens P Bosman, et al.
International Journal of Cardiology|April 13, 2025
Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variantE van Drie, J D H Jongbloed, E Hoorntje, et al.
International Journal of Molecular Sciences|February 25, 2023
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of <i>MYBPC3</i> Founder VariantsMark Jansen, Maike Schuldt, Beau O van Driel, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countriesD Chandler, D Angelicheva, L Heather, et al.
Human Mutation|June 17, 2018
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disordersEline Overwater, Luisa Marsili, Marieke J H Baars, et al.
JACC. Heart Failure|August 11, 2023
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort StudyMark Jansen, Remco de Brouwer, Fahima Hassanzada, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|August 12, 2020
Strength of patient cohorts and biobanks for cardiomyopathy researchR A de Boer, L L A M Nijenkamp, H H W Silljé, et al.
Pageof 25