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Sandra Bonache

Showing results (21-30 of 26) with videos related to

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Frontiers in Genetics|September 21, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, et al.
International Journal of Cancer|October 17, 2013
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variantsSara Gutiérrez-Enríquez, Sandra Bonache, Gorka Ruíz de Garibay, et al.
Human Molecular Genetics|February 27, 2014
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortiumMara Colombo, Marinus J Blok, Phillip Whiley, et al.
Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.
EMBO Molecular Medicine|November 1, 2018
A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutationMarta Castroviejo-Bermejo, Cristina Cruz, Alba Llop-Guevara, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Frontiers in Genetics|September 21, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, et al.
International Journal of Cancer|October 17, 2013
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variantsSara Gutiérrez-Enríquez, Sandra Bonache, Gorka Ruíz de Garibay, et al.
Human Molecular Genetics|February 27, 2014
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortiumMara Colombo, Marinus J Blok, Phillip Whiley, et al.
Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.
EMBO Molecular Medicine|November 1, 2018
A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutationMarta Castroviejo-Bermejo, Cristina Cruz, Alba Llop-Guevara, et al.
Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.
Pageof 3