खोज परिणाम - Ronald H. Lekanne Deprez

  • प्रदर्शित 1 - 16 परिणाम 16
परिणाम को परिष्कृत करें
  1. 1
    Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

    Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance द्वारा Freyja H.M. van Lint, Olaf R.F. Mook, Mariëlle Alders, Hennie Bikker, Ronald H. Lekanne Deprez, Imke Christiaans

    प्रकाशित 2019
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  2. 2
    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene द्वारा Ronald H. Lekanne Deprez, J J Muurling-Vlietman, J Hruda, Marieke J.H. Baars, Liliane C. D. Wijnaendts, Irene Stolte‐Dijkstra, Mariëlle Alders, Johanna M. van Hagen

    प्रकाशित 2006
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    Carta
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    में बचाया:
  3. 3
    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes

    Yield of Molecular and Clinical Testing for Arrhythmia Syndromes द्वारा Nynke Hofman, Hanno L. Tan, Mariëlle Alders, I. Kolder, Simone de Haij, Marcel M.A.M. Mannens, Maria Lombardi, Ronald H. Lekanne Deprez, Irene M. van Langen, Arthur A.M. Wilde

    प्रकाशित 2013
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    Artigo
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    में बचाया:
  4. 4
    Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death

    Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death द्वारा Rafik Tadros, Eline A. Nannenberg, Krystien V.V. Lieve, Doris Škorić‐Milosavljević, Najim Lahrouchi, Ronald H. Lekanne Deprez, Jeroen Vendrik, Yolan J. Reckman, Pieter G. Postema, Ahmad S. Amin, Connie R. Bezzina, Arthur A.M. Wilde, Hanno L. Tan

    प्रकाशित 2017
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    Artigo
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    में बचाया:
  5. 5
    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories द्वारा 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

    प्रकाशित 2013
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Revisão
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    में बचाया:
  6. 6
    Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

    Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy द्वारा 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

    प्रकाशित 2019
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    Artigo
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    में बचाया:
  7. 7
    International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

    International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework द्वारा 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

    प्रकाशित 2021
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    Artigo
    सूची में सहेजें
    में बचाया:
  8. 8
    Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant

    Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant द्वारा Esmée van Drie, Jan D.H. Jongbloed, Edgar T. Hoorntje, Paul A. van der Zwaag, Moniek G.P.J. Cox, Ronald H. Lekanne Deprez, Arjan C. Houweling, Virginnio Proost, A. A. M. Wilde, Dennis Dooijes, Annette F. Baas, Anneline S.J.M. te Riele, Karin Y. van Spaendonck‐Zwarts, Elisabeth M. Lodder, J. Peter van Tintelen

    प्रकाशित 2025
    पूर्ण पाठ प्राप्त करें
    Artigo
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    में बचाया:
  9. 9
    Outcome in Phospholamban R14del Carriers

    Outcome in Phospholamban R14del Carriers द्वारा Ingrid A.W. van Rijsingen, Paul A. van der Zwaag, Judith A. Groeneweg, Eline A. Nannenberg, Jan D.H. Jongbloed, Aeilko H. Zwinderman, Yigal M. Pinto, Ronald H. Lekanne Deprez, Jan G. Post, Hanno L. Tan, Rudolf A. de Boer, Richard N.W. Hauer, Imke Christiaans, Maarten P. van den Berg, J. Peter van Tintelen, Arthur A.M. Wilde

    प्रकाशित 2014
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
    सूची में सहेजें
    में बचाया:
  10. 10
    Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo

    Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo द्वारा Freyja H.M. van Lint, Brittney Murray, Crystal Tichnell, Rob Zwart, Nuria Amat, Ronald H. Lekanne Deprez, Sven Dittmann, Birgit Stallmeyer, Hugh Calkins, Jasper J. van der Smagt, Arthur van den Wijngaard, Dennis Dooijes, Paul A. van der Zwaag, Eric Schulze‐Bahr, Daniel P. Judge, Jan D.H. Jongbloed, J. Peter van Tintelen, Cynthia A. James

    प्रकाशित 2019
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    Artigo
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    में बचाया:
  11. 11
    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data द्वारा Ivo F.A.C. Fokkema, Kasper Joeri van der Velde, Mariska Slofstra, Claudia Ruivenkamp, Maartje J. Vogel, Rolph Pfundt, Marinus J. Blok, Ronald H. Lekanne Deprez, Quinten Waisfisz, Kristin M. Abbott, Richard J. Sinke, Rubayte Rahman, Isaäc J. Nijman, Bart de Koning, Gert Thijs, Nienke Wieskamp, R. Moritz, Bart Charbon, Jasper J. Saris, Johan T. den Dunnen, Jeroen F. J. Laros, Morris A. Swertz, Mariëlle van Gijn

    प्रकाशित 2019
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    Artigo
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  12. 12
    Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

    Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy द्वारा Joeri A. Jansweijer, Karin Nieuwhof, Francesco Paolo Russo, Edgar T. Hoorntje, Jan D.H. Jongbloed, Ronald H. Lekanne Deprez, Alex V. Postma, Marieke Bronk, Ingrid A.W. van Rijsingen, Simone de Haij, Elena Biagini, Paul L. van Haelst, Jan van Wijngaarden, Maarten P. van den Berg, Arthur A.M. Wilde, Marcel M.A.M. Mannens, Rudolf A. de Boer, Karin Y. van Spaendonck‐Zwarts, J. Peter van Tintelen, Yigal M. Pinto

    प्रकाशित 2016
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    Artigo
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    में बचाया:
  13. 13
    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

    Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy द्वारा Jaap I. van Waning, Kadir Çalişkan, Yvonne M. Hoedemaekers, Karin Y. van Spaendonck‐Zwarts, Annette F. Baas, S. Matthijs Boekholdt, Joost P. van Melle, Arco J. Teske, Folkert W. Asselbergs, Ad Backx, Gideon J. du Marchie Sarvaas, Michiel Dalinghaus, Johannes M. P. J. Breur, Marijke Linschoten, Laura A. Verlooij, Isabella Kardys, Dennis Dooijes, Ronald H. Lekanne Deprez, Arne IJpma, Maarten P. van den Berg, Robert M.W. Hofstra, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Daniëlle Majoor‐Krakauer

    प्रकाशित 2018
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    Artigo
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    में बचाया:
  14. 14
    Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

    Evidence-Based Assessment of Genes in Dilated Cardiomyopathy द्वारा Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renée Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros‐Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James S. Ware, Ray E. Hershberger

    प्रकाशित 2021
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    Artigo
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    में बचाया:
  15. 15
    Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

    Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogeni... द्वारा Paul A. van der Zwaag, Ingrid A.W. van Rijsingen, Angeliki Asimaki, Jan D.H. Jongbloed, Dirk J. van Veldhuisen, Ans C.P. Wiesfeld, Moniek G.P.J. Cox, Laura T. van Lochem, Rudolf A. de Boer, Robert M.W. Hofstra, Imke Christiaans, Karin Y. van Spaendonck‐Zwarts, Ronald H. Lekanne Deprez, Daniel P. Judge, Hugh Calkins, Albert J.H. Suurmeijer, Richard N.W. Hauer, Jeffrey E. Saffitz, Arthur A.M. Wilde, Maarten P. van den Berg, J. Peter van Tintelen

    प्रकाशित 2012
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    Artigo
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    में बचाया:
  16. 16
    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies

    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies द्वारा Job A.J. Verdonschot, Els K. Vanhoutte, Godelieve R.F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M.E.I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. Van Craenenbroeck, Bart Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q.C.M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stéphane Heymans, Ingrid P.C. Krapels, Han G. Brunner

    प्रकाशित 2020
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    Revisão
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    में बचाया:

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