Publications by the researcher in collaboration with R. Domingo Jiménez (3)

2019

  1. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

    Neurogenetics

2018

  1. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy

    European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406

2015

  1. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

    Endocrine, Vol. 49, Núm. 1, pp. 139-147