Publicaciones en colaboración con investigadores/as de University Hospital Heidelberg (2)

2024

  1. Comparison of the ABC and ACMG systems for variant classification

    European Journal of Human Genetics

2020

  1. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Brain, Vol. 143, Núm. 10, pp. 2929-2944