Publicaciones en colaboración con investigadores/as de Centro de Regulación Genómica (5)

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

2017

  1. GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence after Stroke

    Stroke, Vol. 48, Núm. 5, pp. 1147-1153

2009

  1. Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: A case-control study

    Nutritional Neuroscience, Vol. 12, Núm. 4, pp. 183-188

2007

  1. High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in Northern Spain: Mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 12, pp. 4853-4864

  2. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry

    Annals of Human Genetics, Vol. 71, Núm. 2, pp. 194-201