Publicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (4)

2024

  1. Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

    American Journal of Medical Genetics, Part A, Vol. 194, Núm. 2, pp. 211-217

2021

  1. Abnormal frontal gyrification pattern and uncinate development in patients with KGB syndrome caused by ANKRD11 aberrations

    European Journal of Paediatric Neurology, Vol. 35, pp. 8-15

  2. Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases

    Molecular Syndromology, Vol. 12, Núm. 3, pp. 186-193

2020

  1. ANO3 and early-onset dyskinetic encephalopathy

    European Journal of Medical Genetics, Vol. 63, Núm. 12