Publikationen, an denen er mitarbeitet DIANA VALVERDE PEREZ (5)

2023

  1. Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS)

    Methods in Cell Biology (Academic Press Inc.), pp. 125-137

2022

  1. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    npj Genomic Medicine, Vol. 7, Núm. 1

  2. Common Variation in EDN1 Regulatory Regions Highlights the Role of PPARγ as a Key Regulator of Endothelin in vitro

    Frontiers in Cardiovascular Medicine, Vol. 9

2021

  1. ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

    Frontiers in Cell and Developmental Biology, Vol. 9

  2. Prevalent alms1 pathogenic variants in spanish alström patients

    Genes, Vol. 12, Núm. 2, pp. 1-12