Publikationen in Zusammenarbeit mit Forschern von University of Messina (2)

2019

  1. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Brain, Vol. 142, Núm. 10, pp. 2948-2964

2018

  1. A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

    Human Mutation, Vol. 39, Núm. 2, pp. 187-192