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

2018

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

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

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

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