Publicaciones en colaboración con investigadores/as de Corporació Sanitària Parc Taulí (3)

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2018

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

    BMC Medical Genetics, Vol. 19, Núm. 1

2015

  1. Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

    Molecular Autism, Vol. 6, Núm. 1