Publications en collaboration avec des chercheurs de University College London (3)

2019

  1. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 721-730

2015

  1. Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency

    Pediatrics, Vol. 136, Núm. 2, pp. e424-e432

2009

  1. Long-term needs of adult patients with organic acidaemias: Outcome and prognostic factors

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. 4, pp. 523-533