Publicaciones en colaboración con investigadoras/es de Hospital Universitario Nuestra Señora de Candelaria (3)

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2010

  1. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110