Publicacións nas que colabora con Jorge Amigo Lechuga (3)

2017

  1. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

    Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313

2015

  1. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

2011

  1. Call for participation in the neurogenetics consortium within the Human Variome Project

    Neurogenetics, Vol. 12, Núm. 3, pp. 169-173