Hakutulokset - Lech Paluszkiewicz

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  1. 1
    Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

    Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect Tekijä Andreas Brodehl, Seyed Ahmad Pour Hakimi, Caroline Stanasiuk, Sandra Ratnavadivel, Doris Hendig, Anna Gaertner, Brenda Gerull, Jan Gummert, Lech Paluszkiewicz, Hendrik Milting

    Julkaistu 2019
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  2. 2
    The novel αB‐crystallin ( <i>CRYAB</i> ) mutation p.D109G causes restrictive cardiomyopathy

    The novel αB‐crystallin ( <i>CRYAB</i> ) mutation p.D109G causes restrictive cardiomyopathy Tekijä Andreas Brodehl, Anna Gaertner, Bärbel Klauke, S. Grewe, Ilona Schirmer, Andreas Peterschröder, Lothar Faber, Matthias Vorgerd, Jan Gummert, Dario Anselmetti, Uwe Schulz, Lech Paluszkiewicz, Hendrik Milting

    Julkaistu 2017
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  3. 3
    High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation

    High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation Tekijä Baerbel Klauke, Anna Gaertner, Uwe Schulz, Astrid Kassner, Edzard zu Knyphausen, T. Laser, Deniz Kececioglu, Lech Paluszkiewicz, Ute Blanz, Eugen Sandica, Antoon J. van den Bogaerdt, J. Peter van Tintelen, Jan Gummert, Hendrik Milting

    Julkaistu 2017
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  4. 4
    A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy

    A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy Tekijä Andreas Brodehl, Jürgen Weiß, Jana Davina Debus, Caroline Stanasiuk, Bärbel Klauke, Marcus André Deutsch, Henrik Fox, Jördis Bax, Hans Ebbinghaus, Anna Gärtner, Jens Tiesmeier, T. Laser, Andreas Peterschröder, Brenda Gerull, Jan Gummert, Lech Paluszkiewicz, Hendrik Milting

    Julkaistu 2020
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