Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario Son Espases (3)

2024

  1. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

2021

  1. COVID-19 in children with neuromuscular disorders

    Journal of neurology, Vol. 268, Núm. 9, pp. 3081-3085

  2. Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1