Hasil Pencarian - Marjon A. van Slegtenhorst

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  1. 1
    Novel Morphological Features on CMR for the Prediction of Pathogenic Sarcomere Gene Variants in Subjects Without Hypertrophic Cardiomyopathy

    Novel Morphological Features on CMR for the Prediction of Pathogenic Sarcomere Gene Variants in Subjects Without Hypertrophic Cardiomyopathy oleh Nikki van der Velde, Nikki van der Velde, Roy Huurman, H. Carlijne Hassing, H. Carlijne Hassing, Ricardo P. J. Budde, Marjon A. van Slegtenhorst, Judith M. A. Verhagen, Arend F. L. Schinkel, Michelle Michels, Alexander Hirsch, Alexander Hirsch

    Diterbitkan 2021-09-01
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  2. 2
    FLNC missense variants in familial noncompaction cardiomyopathy

    FLNC missense variants in familial noncompaction cardiomyopathy oleh Jaap I. van Waning, Yvonne M. Hoedemaekers, Wouter P. te Rijdt, Arne I. Jpma, Daphne Heijsman, Kadir Caliskan, Elke S. Hoendermis, Tineke P. Willems, Arthur van den Wijngaard, Albert Suurmeijer, Marjon A. van Slegtenhorst, Jan D.H. Jongbloed, Danielle F. Majoor-Krakauer, Paul A. van der Zwaag

    Diterbitkan 2019-10-01
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  3. 3
    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome oleh Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini

    Diterbitkan 2024-10-01
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  4. 4
    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion

    Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion oleh Janne J. M. van Schie, Atiq Faramarz, Jesper A. Balk, Grant S. Stewart, Erika Cantelli, Anneke B. Oostra, Martin A. Rooimans, Joanna L. Parish, Cynthia de Almeida Estéves, Katja Dumic, Ingeborg Barisic, Karin E. M. Diderich, Marjon A. van Slegtenhorst, Mohammad Mahtab, Francesca M. Pisani, Hein te Riele, Najim Ameziane, Rob M. F. Wolthuis, Job de Lange

    Diterbitkan 2020-08-01
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  5. 5
    Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

    Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization oleh Claudine W.B. Ruijmbeek, Filomena Housley, Hafiza Idrees, Michael P. Housley, Jenny Pestel, Leonie Keller, Jason K.H. Lai, Herma C. van der Linde, Rob Willemsen, Janett Piesker, Zuhair N. Al-Hassnan, Abdulrahman Almesned, Michiel Dalinghaus, Lisa M. van den Bersselaar, Marjon A. van Slegtenhorst, Federico Tessadori, Jeroen Bakkers, Tjakko J. van Ham, Didier Y.R. Stainier, Judith M.A. Verhagen, Sven Reischauer

    Diterbitkan 2023-09-01
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