Publicacións en colaboración con investigadores/as de Lankenau Institute for Medical Research (2)

2021

  1. MYH7 p.Glu903Gln Is a Pathogenic Variant Associated With Hypertrophic Cardiomyopathy

    Circulation: Genomic and Precision Medicine, Vol. 14, Núm. 5, pp. E003476

2020

  1. Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease

    EBioMedicine, Vol. 54