Publications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria Biocruces Bizkaia (7)

2023

  1. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106

2022

  1. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain

    Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29

2021

  1. Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience

    Children, Vol. 8, Núm. 11

2020

  1. Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2)

    Stem Cell Research, Vol. 49

2013

  1. Brachydactyly E: Isolated or as a feature of a syndrome

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

  2. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

    American Journal of Medical Genetics, Part A, Vol. 161, Núm. 9, pp. 2363-2368

2010

  1. Towards an Effective Knowledge Translation of Clinical Guidelines and Complementary Information

    DISTRIBUTED COMPUTING AND ARTIFICIAL INTELLIGENCE