Publicaciones en colaboración con investigadores/as de French Institute of Health and Medical Research (4)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2019

  1. Research priorities for European paediatric emergency medicine

    Archives of Disease in Childhood, Vol. 104, Núm. 9, pp. 869-873

2015

  1. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Clinical Epigenetics, Vol. 7, Núm. 1

2014

  1. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step pcrbased enrichment in combination with next-generation sequencing

    Diabetes Care, Vol. 37, Núm. 2, pp. 460-467