Publicaciones en colaboración con investigadores/as de University of Paris-Sorbonne (5)

2023

  1. Correction to: Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group (Pediatric Research, (2022), 91, 5, (1069-1077), 10.1038/s41390-021-01587-3)

    Pediatric Research

2022

  1. Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group

    Pediatric Research, Vol. 91, Núm. 5, pp. 1069-1077

2021

  1. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    American Journal of Human Genetics, Vol. 108, Núm. 6, pp. 1138-1150

  2. Pharmacokinetic study (phase I−II) of a new dobutamine formulation in preterm infants immediately after birth

    Pediatric Research, Vol. 89, Núm. 4, pp. 981-986

2020

  1. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347