Publications en collaboration avec des chercheurs de Vall d'Hebron Institut de Recerca (6)

2022

  1. Development of Lung Function in Preterm Infants During the First Two Years of Life

    Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

2020

  1. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

2019

  1. Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study

    Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846

2018

  1. Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

    Muscle and Nerve, Vol. 58, Núm. 6, pp. 812-817