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Paul A van der Zwaag

Showing results (1-10 of 49) with videos related to

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Human Mutation|February 14, 2015
The ARVD/C genetic variants database: 2014 updateElisabetta Lazzarini, Jan D H Jongbloed, Kalliopi Pilichou, et al.
Frontiers in Genetics|March 18, 2022
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic CardiogeneticsMohamed Z Alimohamed, Helga Westers, Yvonne J Vos, et al.
European Journal of Medical Genetics|November 28, 2009
An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2Paul A van der Zwaag, Trijnie Dijkhuizen, Klasien B J Gerssen-Schoorl, et al.
Human Mutation|July 2, 2009
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathyPaul A van der Zwaag, Jan D H Jongbloed, Maarten P van den Berg, et al.
Gene|October 21, 2022
SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnosticsMohamed Z Alimohamed, Ludolf G Boven, Krista K van Dijk, et al.
Circulation. Genomic and Precision Medicine|October 26, 2018
Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac DiseasesEline A Nannenberg, Ingrid A W van Rijsingen, Paul A van der Zwaag, et al.
Journal of Clinical Medicine|February 27, 2026
Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three ImmunoassaysMilou Berends, Johan Bijzet, Suzanne Arends, et al.
European Journal of Nuclear Medicine and Molecular Imaging|August 8, 2024
[<sup>99m</sup>Tc]Tc-hydroxydiphosphonate uptake in soft tissue is associated with amyloid load in subcutaneous abdominal fat tissue and mortality in wild-type transthyretin amyloidosis patientsHendrea Sanne Aletta Tingen, Dion Groothof, Alwin Tubben, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|February 15, 2019
Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathyWouter P Te Rijdt, Angeliki Asimaki, Jan D H Jongbloed, et al.
Journal of Cardiovascular Translational Research|January 9, 2023
Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA CarriersEsteban A Lopera-Maya, Shuang Li, Remco de Brouwer, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
Human Mutation|February 14, 2015
The ARVD/C genetic variants database: 2014 updateElisabetta Lazzarini, Jan D H Jongbloed, Kalliopi Pilichou, et al.
Frontiers in Genetics|March 18, 2022
Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic CardiogeneticsMohamed Z Alimohamed, Helga Westers, Yvonne J Vos, et al.
European Journal of Medical Genetics|November 28, 2009
An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2Paul A van der Zwaag, Trijnie Dijkhuizen, Klasien B J Gerssen-Schoorl, et al.
Human Mutation|July 2, 2009
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathyPaul A van der Zwaag, Jan D H Jongbloed, Maarten P van den Berg, et al.
Gene|October 21, 2022
SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnosticsMohamed Z Alimohamed, Ludolf G Boven, Krista K van Dijk, et al.
Circulation. Genomic and Precision Medicine|October 26, 2018
Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac DiseasesEline A Nannenberg, Ingrid A W van Rijsingen, Paul A van der Zwaag, et al.
Journal of Clinical Medicine|February 27, 2026
Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three ImmunoassaysMilou Berends, Johan Bijzet, Suzanne Arends, et al.
European Journal of Nuclear Medicine and Molecular Imaging|August 8, 2024
[<sup>99m</sup>Tc]Tc-hydroxydiphosphonate uptake in soft tissue is associated with amyloid load in subcutaneous abdominal fat tissue and mortality in wild-type transthyretin amyloidosis patientsHendrea Sanne Aletta Tingen, Dion Groothof, Alwin Tubben, et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|February 15, 2019
Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathyWouter P Te Rijdt, Angeliki Asimaki, Jan D H Jongbloed, et al.
Journal of Cardiovascular Translational Research|January 9, 2023
Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA CarriersEsteban A Lopera-Maya, Shuang Li, Remco de Brouwer, et al.
Pageof 5