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19 results on '"Legrand, Clémentine"'

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1. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

2. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.

4. BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management

5. Medulloblastomas with ELP1 pathogenic variants: a weakly penetrant syndrome with a restricted spectrum in a limited age window

10. A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.

11. AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer

12. AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

13. A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking lynch syndrome

14. Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

15. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

16. Anomalies Morphologiques Multiples des Flagelles chez des patients infertiles : évaluation du pronostic de l’ICSI chez les patients mutés dans le gène DNAH1 et caractérisation de nouveaux gènes

17. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

18. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

19. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

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