Hasil Pencarian - Anna Gaertner

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  1. 1
    Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

    Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene? oleh Anna Gaertner, Andreas Brodehl, Hendrik Milting

    Diterbitkan 2018-11-01
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  2. 2
    RBM20 mutations in left ventricular non‐compaction cardiomyopathy

    RBM20 mutations in left ventricular non‐compaction cardiomyopathy oleh Anna Gaertner, Bärbel Klauke, Andreas Brodehl, Hendrik Milting

    Diterbitkan 2020-03-01
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  3. 3
    In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.

    In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations. oleh Anna Gaertner, Baerbel Klauke, Ines Stork, Karsten Niehaus, Gesa Niemann, Jan Gummert, Hendrik Milting

    Diterbitkan 2012-01-01
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  4. 4
    Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing

    Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing oleh Greta Marie Pohl, Manuel Göz, Anna Gaertner, Andreas Brodehl, Tolga Cimen, Ardan M. Saguner, Eric Schulze-Bahr, Volker Walhorn, Dario Anselmetti, Hendrik Milting

    Diterbitkan 2023-05-01
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  5. 5
    Compound Heterozygous <i>FKTN</i> Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern

    Compound Heterozygous <i>FKTN</i> Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern oleh Anna Gaertner, Lidia Burr, Baerbel Klauke, Andreas Brodehl, Kai Thorsten Laser, Karin Klingel, Jens Tiesmeier, Uwe Schulz, Edzard zu Knyphausen, Jan Gummert, Hendrik Milting

    Diterbitkan 2022-06-01
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  6. 6
    The Desmin Mutation <i>DES</i>-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3

    The Desmin Mutation <i>DES</i>-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3 oleh Andreas Brodehl, Carsten Hain, Franziska Flottmann, Sandra Ratnavadivel, Anna Gaertner, Bärbel Klauke, Jörn Kalinowski, Hermann Körperich, Jan Gummert, Lech Paluszkiewicz, Marcus-André Deutsch, Hendrik Milting

    Diterbitkan 2021-10-01
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  7. 7
    Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9

    Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 oleh Sandra Ratnavadivel, Joline Dammeier, Anna Gaertner, Marcelo A. Szymanski de Toledo, Martin Zenke, Jan Gummert, Torsten Bloch Rasmussen, Nora Klinke, Kai Jürgens, Heiko Meyer, Achim Paululat, Hendrik Milting

    Diterbitkan 2024-04-01
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  8. 8
    Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

    Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy oleh Anna Gaertner‐Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit, Bernd Bachmann‐Mennenga, Lech Paluszkiewicz, Karin Klingel, Uwe Schulz, Kai T. Laser, Bernd Karger, Heidi Pfeiffer, Hendrik Milting

    Diterbitkan 2019-08-01
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  9. 9
    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. oleh Baerbel Klauke, Anna Gaertner-Rommel, Uwe Schulz, Astrid Kassner, Edzard Zu Knyphausen, Thorsten Laser, Deniz Kececioglu, Lech Paluszkiewicz, Ute Blanz, Eugen Sandica, Antoon J van den Bogaerdt, J Peter van Tintelen, Jan Gummert, Hendrik Milting

    Diterbitkan 2017-01-01
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