Publikace
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | 1. lékařská fakulta
- Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer2016 | 1. lékařská fakulta
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | 1. lékařská fakulta
- Expression of human BRCA1 Delta 17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response2013 | 1. lékařská fakulta, 3. lékařská fakulta
- The BRCA1 alternative splicing variant Delta 14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells2012 | 1. lékařská fakulta, 3. lékařská fakulta
- Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer2019 | 1. lékařská fakulta
- Dědičné mutace v genu CHEK2 jako příčina dispozice k nádorům prsu - typy mutací, jejich biologická a klinická relevance2019 | 1. lékařská fakulta
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | 1. lékařská fakulta
- The c.657de15 variant in the NBN gene predisposes to pancreatic cancer2016 | 1. lékařská fakulta
- RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk2016 | 1. lékařská fakulta
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