Publikationen in Zusammenarbeit mit Forschern von Fundación Pública Galega de Medicina Xenómica (3)

2017

  1. Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

    Hormones, Vol. 16, Núm. 2, pp. 194-199

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia