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Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
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DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
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Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.
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A nervous predisposition to unrepaired DNA double strand breaks.
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Fertility defects revealing germline biallelic nonsense NBN mutations.
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Human Mutation, 2009
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