खोज परिणाम - Kirsten R. Straasheijm

  • प्रदर्शित 1 - 9 परिणाम 9
परिणाम को परिष्कृत करें
  1. 1
    Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

    Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level द्वारा Rinse Klooster, Kirsten R. Straasheijm, Bharati Shah, Janet E. Sowden, Rune R. Frants, Charles A. Thornton, Rabi Tawil, Silvère M. van der Maarel

    प्रकाशित 2009
    पूर्ण पाठ प्राप्त करें पूर्ण पाठ प्राप्त करें
    Artigo
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  2. 2
    MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4

    MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4 द्वारा Maartje G. Huijbers, Wei Zhang, Rinse Klooster, Erik H. Niks, Matthew B. Friese, Kirsten R. Straasheijm, Peter Thijssen, Hans Vrolijk, Jaap J. Plomp, Pauline Vogels, Mario Losen, Silvère M. van der Maarel, Steven J. Burden, Jan J.G.M. Verschuuren

    प्रकाशित 2013
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    Artigo
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  3. 3
    Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

    Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice द्वारा Rinse Klooster, Jaap J. Plomp, Maartje G. Huijbers, Erik H. Niks, Kirsten R. Straasheijm, Frank Detmers, Pim Hermans, Kevin Sleijpen, Aad Verrips, Mario Losen, Pilar Martínez‐Martínez, Marc H. De Baets, Silvère M. van der Maarel, Jan J.G.M. Verschuuren

    प्रकाशित 2012
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    Artigo
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  4. 4
    Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

    Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 द्वारा Judit Balog, Peter Thijssen, Sean Shadle, Kirsten R. Straasheijm, Patrick J. van der Vliet, Yvonne D. Krom, Marlinde L. van den Boogaard, Annika de Jong, Richard J.L.F. Lemmers, Rabi Tawil, Stephen J. Tapscott, Silvère M. van der Maarel

    प्रकाशित 2015
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    Artigo
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  5. 5
    A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

    A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy द्वारा Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, G J van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, Silvère M. van der Maarel

    प्रकाशित 2010
    पूर्ण पाठ प्राप्त करें
    Artigo
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  6. 6
    The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

    The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 द्वारा Sabrina Sacconi, Richard J.L.F. Lemmers, Judit Balog, Patrick J. van der Vliet, Pauline Lahaut, Merlijn P. van Nieuwenhuizen, Kirsten R. Straasheijm, Rashmie D. Debipersad, Marianne Vos-Versteeg, Leonardo Salviati, Alberto Casarin, Elena Pegoraro, Rabi Tawil, Egbert Bakker, Stephen J. Tapscott, Claude Desnuelle, Silvère M. van der Maarel

    प्रकाशित 2013
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    Artigo
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    में बचाया:
  7. 7
    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

    Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2 द्वारा Jessica C. de Greef, Jun Wang, Judit Balog, Johan T. den Dunnen, Rune R. Frants, Kirsten R. Straasheijm, Caner Aytekin, Mirjam van der Burg, Laurence Duprez, Alina Ferster, Andrew R. Gennery, Giorgio Gimelli, İsmail Reisli, Catharina Schuetz, Ansgar Schulz, Dominique Smeets, Yves Sznajer, Cisca Wijmenga, M C van Eggermond, Monique M. van Ostaijen-ten Dam, Arjan C. Lankester, Maarten J. D. van Tol, Peter J. van den Elsen, Corry M.R. Weemaes, Silvère M. van der Maarel

    प्रकाशित 2011
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    Artigo
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    में बचाया:
  8. 8
    Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

    Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy द्वारा Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog, Mariëlle Wohlgemuth, Mari Auranen, Satomi Mitsuhashi, Patrick J. van der Vliet, Kirsten R. Straasheijm, Rob F. P. van den Akker, Marjolein Kriek, Marlies E.Y. Laurense-Bik, Vered Raz, Monique M. van Ostaijen-ten Dam, Kerstin Hansson, E.L. van der Kooi, Sari Kiuru‐Enari, B. Udd, Maarten J. D. van Tol, Ichizo Nishino, Rabi Tawil, Stephen J. Tapscott, Baziel G.M. van Engelen, Silvère M. van der Maarel

    प्रकाशित 2016
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    Artigo
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  9. 9
    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

    Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 द्वारा Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marjolein Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel

    प्रकाशित 2012
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    Artigo
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