检索结果 - Jan D.H. Jongbloed
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Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy 由 Marijke Wasielewski, Karin Y. van Spaendonck‐Zwarts, Nico-Derk L. Westerink, Jan D.H. Jongbloed, A. Postma, Jourik A. Gietema, J. Peter van Tintelen, Maarten P. van den Berg
出版 2014Artigo -
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Prevalence and Prognostic Impact of Pathogenic Variants in Patients With Dilated Cardiomyopathy Referred for Ventricular Tachycardia Ablation 由 Micaela Ebert, Adrianus P. Wijnmaalen, Marta Riva, Serge A. Trines, Alexander F.A. Androulakis, Claire A. Glashan, Martin J. Schalij, J. Peter van Tintelen, Jan D.H. Jongbloed, Katja Zeppenfeld
出版 2020Artigo -
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Proteomics of Protein Secretion by <i>Bacillus subtilis</i> : Separating the “Secrets” of the Secretome 由 Harold Tjalsma, Haike Antelmann, Jan D.H. Jongbloed, Peter Braun, Elise Darmon, Ronald Dorenbos, Jean‐Yves F. Dubois, Helga Westers, Geeske Zanen, Wim J. Quax, Oscar P. Kuipers, Sierd Bron, Michael Hecker, Jan Maarten van Dijl
出版 2004Revisão -
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CoNVaDING: Single Exon Variation Detection in Targeted NGS Data 由 Lennart Johansson, Freerk van Dijk, Eddy N. de Boer, Krista K. van Dijk-Bos, Jan D.H. Jongbloed, Annemieke H. van der Hout, Helga Westers, Richard J. Sinke, Morris A. Swertz, Rolf H. Sijmons, Birgit Sikkema‐Raddatz
出版 2016Artigo -
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Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics 由 Birgit Sikkema‐Raddatz, Lennart Johansson, Eddy N. de Boer, Rowida Almomani, Ludolf G. Boven, Maarten P. van den Berg, Karin Y. van Spaendonck‐Zwarts, J. Peter van Tintelen, Rolf H. Sijmons, Jan D.H. Jongbloed, Richard J. Sinke
出版 2013Artigo -
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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories 由 Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep
出版 2013Revisão -
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Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy 由 Oyediran Akinrinade, Tiina Heliö, Ronald H. Lekanne Deprez, Jan D.H. Jongbloed, Ludolf G. Boven, Maarten P. van den Berg, Yigal M. Pinto, Tero‐Pekka Alastalo, Samuel Myllykangas, Karin van Spaendonck‐Zwarts, J. Peter van Tintelen, Paul A. van der Zwaag, Juha Koskenvuo
出版 2019Artigo -
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Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization 由 K. Joeri van der Velde, Joël Kuiper, Bryony A. Thompson, John‐Paul Plazzer, Gert van Valkenhoef, Mark de Haan, Jan D.H. Jongbloed, Cisca Wijmenga, Tom J. de Koning, Kristin M. Abbott, Richard J. Sinke, Amanda B. Spurdle, Finlay Macrae, Maurizio Genuardi, Rolf H. Sijmons, Morris A. Swertz
出版 2015Artigo -
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Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders 由 Eddy N. de Boer, Arjen J. Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Annelies M. ten Berge, P.M. Grootscholten, Henny H. Lemmink, Jan D.H. Jongbloed, Laura Bosscher, N. Knoers, Morris A. Swertz, Birgit Sikkema‐Raddatz, Dorieke J. Dijkstra, Lennart Johansson, Cleo C. van Diemen
出版 2025Artigo -
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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy 由 Arthur van den Wijngaard, Paul G.A. Volders, J. Peter van Tintelen, Jan D.H. Jongbloed, Maarten P. van den Berg, R. H. Lekanne Deprez, Marcel M.A.M. Mannens, Natalia K. Hofmann, Marjon van Slegtenhorst, Dennis Dooijes, Michelle Michels, Yvonne Arens, R. J. E. Jongbloed, H.J.M. Smeets
出版 2011Artigo -
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Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy 由 Karin Y. van Spaendonck‐Zwarts, Anna Pósafalvi, Maarten P. van den Berg, Denise Hilfiker‐Kleiner, Ilse A. E. Bollen, Karen Sliwa, Mariëlle Alders, Rowida Almomani, Irene M. van Langen, Peter van der Meer, Richard J. Sinke, Jolanda van der Velden, Dirk J. van Veldhuisen, J. Peter van Tintelen, Jan D.H. Jongbloed
出版 2014Artigo -
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Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients 由 Kalliopi Pilichou, Elisabetta Lazzarini, Ilaria Rigato, Rudy Celeghin, Marzia De Bortoli, Marina Perazzolo Marra, Marco Cason, Jan D.H. Jongbloed, Martina Calore, Stefania Rizzo, Daniela Regazzo, Giulia Poloni, Sabino Iliceto, Luciano Daliento, Pietro Delise, Domenico Corrado, J. Peter van Tintelen, Gaetano Thiene, Alessandra Rampazzo, Cristina Basso, Barbara Bauce, Alessandra Lorenzon, Gianluca Occhi
出版 2017Artigo -
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International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework 由 Cynthia A. James, Jan D.H. Jongbloed, Ray E. Hershberger, Ana Morales, Daniel P. Judge, Petros Syrris, Kalliopi Pilichou, Argelia Medeiros‐Domingo, Brittney Murray, Julia Cadrin‐Tourigny, Ronald H. Lekanne Deprez, Rudy Celeghin, Alexandros Protonotarios, Babken Asatryan, Emily Brown, Elizabeth Jordan, Jennifer McGlaughon, Courtney Thaxton, C. Lisa Kurtz, J. Peter van Tintelen
出版 2021Artigo
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Medicine
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Internal medicine
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Arrhythmogenic right ventricular dysplasia
Bioinformatics
Computational biology
Dilated cardiomyopathy
Genome
Biochemistry
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Phenotype
Sudden cardiac death
Ventricular tachycardia
Bacteria
Cell biology
Exome
Exome sequencing
Bacillus subtilis
Disease
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Implantable cardioverter-defibrillator