Resultats de la cerca - Colleen M. Donlin‐Smith

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  1. 1
    Coats syndrome in facioscapulohumeral dystrophy type 1

    Coats syndrome in facioscapulohumeral dystrophy type 1 per Jeffrey Statland, Sabrina Sacconi, Constantine Farmakidis, Colleen M. Donlin‐Smith, Mina Chung, Rabi Tawil

    Publicat 2013
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  2. 2
    Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy

    Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy per Jeffrey Statland, Colleen M. Donlin‐Smith, Stephen J. Tapscott, Silvère M. van der Maarel, Rabi Tawil

    Publicat 2014
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  3. 3
    Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

    Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats per Jeffrey Statland, Colleen M. Donlin‐Smith, Stephen J. Tapscott, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Rabi Tawil

    Publicat 2015
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  4. 4
    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 per 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

    Publicat 2012
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