Publicaciones en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (5)

2022

  1. The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    Frontiers in Pediatrics, Vol. 10

2018

  1. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

    Movement Disorders, Vol. 33, Núm. 6, pp. 992-999

2017

  1. A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project-A 2-year follow-up study

    Medicine (United States), Vol. 96, Núm. 19

  2. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189

2014

  1. Variation in laboratory tests ordered for patients treated in hospital emergency departments

    Emergencias, Vol. 26, Núm. 6, pp. 450-458