Publicaciones en las que colabora con Lucía Sentchordi Montané (3)

2016

  1. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 1, pp. 210-216

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962