Publicaciones en colaboración con investigadores/as de Hospital Universitario de Basurto (3)

2022

  1. Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2013

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

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

2009

  1. Risk of cognitive impairment in female Premutation carriers of fragile X premutation: Analysis by means of robust segmented linear regression models

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 150, Núm. 2, pp. 262-270