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Linkage and association in complex genetic diseases.
Academic Article
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Duty to warn about hereditary disease risks.
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PTC124 targets genetic disorders caused by nonsense mutations.
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The prenatal diagnosis of genetic disorders.
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Population screening for genetic disorders in the 21st century: evidence, economics, and ethics.
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Genetic testing of families with hereditary diseases.
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Alzheimer's disease: genetic studies and transgenic models.
Academic Article
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Genetic disorders of copper metabolism.
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Newborn screening compared to clinical identification of biochemical genetic disorders.
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Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation.
Academic Article
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Prenatal diagnosis of genetic disorders.
Academic Article
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A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article
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CDKs as therapeutic targets for the human genetic disease tuberous sclerosis?
Academic Article
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Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
Academic Article
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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
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