Publicacions en què col·labora amb Atilano Carcavilla Urquí (3)

2024

  1. VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation

    Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1

2021

  1. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

    European Journal of Endocrinology, Vol. 185, Núm. 5, pp. 691-705

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