Publicaciones en colaboración con investigadores/as de New York University School of Medicine (3)

2023

  1. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

    Genes, Vol. 14, Núm. 6

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

1999

  1. Mendelian diseases among Roman Jews: Implications for the origins of disease alleles

    Journal of Clinical Endocrinology and Metabolism, Vol. 84, Núm. 12, pp. 4405-4409