Publikationen in Zusammenarbeit mit Forschern von Fundación Pública Galega de Medicina Xenómica (5)

2023

  1. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study

    Neurologia, Vol. 38, Núm. 6, pp. 379-386

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2015

  1. Fluorescence in situ hybridization analysis does not increase detection rate for trisomy 8 in chronic myelomonocytic leukemia

    Leukemia and Lymphoma

2010

  1. BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin

    Clinical Genetics, Vol. 77, Núm. 1, pp. 60-69

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373