Publicaciones en colaboración con investigadores/as de Aix-Marseille University (2)

2015

  1. European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study

    European Journal of Human Genetics, Vol. 23, Núm. 4, pp. 438-444

2013

  1. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with gnas epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b

    Human Mutation, Vol. 34, Núm. 8, pp. 1172-1180