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- 2023
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Mark
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’
(
- Contribution to journal › Letter
- 2022
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Mark
The use of polygenic risk scores in pre-implantation genetic testing : an unproven, unethical practice
(
- Contribution to journal › Article
- 2015
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Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
(
- Contribution to journal › Article
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Mark
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
(
- Contribution to journal › Article
- 2014
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Mark
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
(
- Contribution to journal › Article
- 2009
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Mark
Planning the human variome project: the Spain report.
(
- Contribution to journal › Article