Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2023

  1. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

2021

  1. Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes

    Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75

2019

  1. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

    Nature Medicine, Vol. 25, Núm. 9, pp. 1396-1401