Publicacións nas que colabora con Alejandro Brea Fernández (3)

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

2019

  1. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294