Publications in collaboration with researchers from Centro de Biología Molecular Severo Ochoa (5)

2022

  1. Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

    International journal of molecular sciences, Vol. 23, Núm. 17

2021

  1. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes

    International Journal of Molecular Sciences, Vol. 21, Núm. 3

2019

  1. More than one hmg-coa lyase: The classical mitochondrial enzyme plus the peroxisomal and the cytosolic ones

    International Journal of Molecular Sciences, Vol. 20, Núm. 24

2014

  1. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 503-509