Publications by the researcher in collaboration with GONZALO MARTÍNEZ NAVAJAS (5)

2023

  1. Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C

    Molecular Therapy - Nucleic Acids, Vol. 33, pp. 75-92

2022

  1. Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia

    Frontiers in Endocrinology, Vol. 13

  2. Generation of a H9 Clonal Cell Line With Inducible Expression of NUP98-KDM5A Fusion Gene in the AAVS1 Safe Harbor Locus

    Frontiers in Cell and Developmental Biology, Vol. 10

2019

  1. Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene

    Scientific Reports, Vol. 9, Núm. 1

  2. GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant

    Stem Cell Research, Vol. 41