Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario Príncipe de Asturias (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

2017

  1. Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3

    Human Molecular Genetics, Vol. 26, Núm. 20, pp. 3883-3894