Publicaciones en colaboración con investigadores/as de Hospital Universitario de Basurto (5)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. Natural History of MYH7-Related Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 15, pp. 1447-1461

2018

  1. Salt-losing tubulopathy and chronic dermatitis

    Kidney International, Vol. 94, Núm. 2, pp. 433

2013

  1. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262

2010

  1. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    BMC Neurology, Vol. 10