Publications by the researcher in collaboration with Brais Bea Mascato (3)

2022

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

    npj Genomic Medicine, Vol. 7, Núm. 1

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