Publications in collaboration with researchers from Hospital Universitario 12 de Octubre (4)

2021

  1. Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

    Clinical Genetics

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2017

  1. Molecular diagnosis of limb-girdle muscular dystrophy type 2A by next-generation sequencing

    Annals of Indian Academy of Neurology