Category Archives: Publications

A practical approach to FRET-based PNA fluorescence in situ hybridization. Methods. 2010 Dec;52(4):343-51.

A practical approach to FRET-based PNA fluorescence in situ hybridization. Methods. 2010 Dec;52(4):343-51.

Two founder BRCA2 mutations predispose to breast cancer in young women. Breast Cancer Res Treat. 2010 Jul;122(2):567-71.

Two founder BRCA2 mutations predispose to breast cancer in young women. Breast Cancer Res Treat. [...]

MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res. 2010 Oct 1;70(19):7379-91.

MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res. 2010 Oct [...]

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. (2010) Mol Vis, 16:2550-2558.

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping [...]

Comparison of High-Resolution Melting Analysis with denaturing High-Performance Liquid Chromatography for Mutation Scanning in the ABCA4 gene. (2010) Invest Ophth Vis Sci, 51(5):2615-2619.

Comparison of High-Resolution Melting Analysis with denaturing High-Performance Liquid Chromatography for Mutation Scanning in the [...]

First successful application of preimplantation genetic diagnosis of hereditary angioedema. RBM Online, 2010:21:658-662.

First successful application of preimplantation genetic diagnosis of hereditary angioedema. RBM Online, 2010:21:658-662.

sistemas genómicos
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