Publicaciones en las que colabora con Miguel Urioste Azcorra (8)

2017

  1. Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

    British Journal of Cancer, Vol. 117, Núm. 7, pp. 1048-1062

2013

  1. DNA copy number profiling reveals extensive genomic loss in hereditary BRCA1 and BRCA2 ovarian carcinomas

    British Journal of Cancer, Vol. 108, Núm. 8, pp. 1732-1742

2007

  1. Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families

    Modern Pathology, Vol. 20, Núm. 12, pp. 1298-1306

1992

  1. Acrofacial dysostosis syndromes [1]

    American Journal of Medical Genetics

  2. Anencephaly and limb deficiencies

    American Journal of Medical Genetics, Vol. 44, Núm. 1, pp. 66-71

  3. New lethal acrofacial dysostosis syndrome [5]

    American Journal of Medical Genetics

  4. Tetra-phocomelia with multiple malformations: X-linked amelia, or Roberts syndrome, or DK-phocomelia syndrome? [3]

    American Journal of Medical Genetics

1990

  1. New acrofacial dysostosis syndrome in 3 sibs

    American Journal of Medical Genetics, Vol. 35, Núm. 4, pp. 484-489