Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (5)

2023

  1. Patient With Relapsing Polychondritis and Cutaneous Nodules Being Followed by the Hematology Department for a Myelodysplastic Syndrome

    Actas Dermo-Sifiliograficas

  2. Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)

    International Journal of Dermatology

2021

  1. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

2017

  1. Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene

    Genes and Immunity, Vol. 18, Núm. 3, pp. 197-199

2005

  1. Autosomal dominant congenital fibre type disproportion: A clinicopathological and imaging study of a large family

    Brain, Vol. 128, Núm. 7, pp. 1716-1727