Publicacións en colaboración con investigadores/as de Charité (3)

2012

  1. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

    Nature Genetics, Vol. 44, Núm. 6, pp. 704-708

  2. Querying phenotype-genotype relationships on patient datasets using semantic web technology: The example of cerebrotendinous xanthomatosis

    BMC Medical Informatics and Decision Making, Vol. 12, Núm. 1

2011

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

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