Research output

  1. SMARCA4-associated schwannomatosis

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  2. KBTBD13 is a novel cardiomyopathy gene

    Research output: Contribution to journal › Article › Academic › peer-review

  3. A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

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