Facultade de Medicina e Odontoloxía
Facultad
Birmingham Women's Hospital
Birmingham, Reino UnidoPublicacións en colaboración con investigadores/as de Birmingham Women's Hospital (5)
2017
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778
2015
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312
2010
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Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788
2008
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Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
Human Molecular Genetics, Vol. 17, Núm. 23, pp. 3720-3727