Publications in collaboration with researchers from Stanford University School of Medicine (2)

2015

  1. Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)

    Clinical Immunology, Vol. 161, Núm. 2, pp. 355-365

2014

  1. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Human Molecular Genetics, Vol. 23, Núm. 11, pp. 2888-2900