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" Translational research in genetics and genomics / "
Moyra Smith.
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BL
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| Record Number
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1047613
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b801983
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| Main Entry
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Smith, Moyra.
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| Title & Author
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Translational research in genetics and genomics /\ Moyra Smith.
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| Publication Statement
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Oxford ;New York :: Oxford University Press,, 2008.
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| Page. NO
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1 online resource (xiv, 220 pages) :: illustrations
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| ISBN
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0195313763
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: 0199718342
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: 1282544187
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: 661254418X
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: 9780195313765
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: 9780199718344
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: 9781282544185
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: 9786612544187
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9780195313765
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| Bibliographies/Indexes
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Includes bibliographical references (pages 179-206) and index.
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| Contents
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Isolation of disease genes through genomics -- Advances in genome analysis : discovery of structural variation and genomic dosage differences in health and disease -- Significance of DNA sequence changes for diagnosis and therapy -- Epigenetics -- Complex diseases : molecular genetic contributions to elucidation of etiopathogenesis of late-onset neurodegenerative diseases -- Advances in treatment of single gene disorders through translational science : treatment with small molecules (chaperones), and gene-based therapies -- From gene discovery in genetic syndromes to identification of therapeutic agents -- Impact of the environment on the genome -- Molecular defects in cancer : application to therapy -- Pharmacogenetics and pharmacogenomics -- Phenomes, phenotypes, and clinical genetic services.
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| Abstract
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In Translational Research in Genetics and Genomics, noted geneticist and veteran OUP author, Moyra Smith, present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases.
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| Subject
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Genomics.
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Medical genetics.
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Genetic Diseases, Inborn.
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Genetics, Medical.
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Genomics.
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Genomics.
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HEALTH FITNESS-- Diseases-- Genetic.
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Medical genetics.
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MEDICAL-- Genetics.
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| Dewey Classification
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616/.042
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| LC Classification
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RB155.S55 2008eb
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| NLM classification
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2008 J-440
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QZ 50S647 2008
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