Publikationen in Zusammenarbeit mit Forschern von Hospital Infantil Universitario Niño Jesus de Madrid (2)

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. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829