Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (4)

2022

  1. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24

2017

  1. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189

  2. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

    Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192