Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)

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

2023

  1. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  2. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

2010

  1. Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

    Human Mutation, Vol. 31, Núm. 8, pp. 930-941