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010   $a9786612544187
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100   $a20070910d2008      uy         0
101 0 $aeng
135   $aurcn|||||||||
181   $ctxt
182   $cc
183   $acr
200 10$aTranslational research in genetics and genomics /$fMoyra Smith
205   $a1st ed.
210   $aOxford ;$aNew York $cOxford University Press$d2008
215   $axiv, 220 p. $cill
225 1 $aOxford scholarship online
300   $aPreviously issued in print: 2008.
311   $a0-19-531376-3 
320   $aIncludes bibliographical references (p. 179-206) and index.
327   $aIntro -- Contents -- 1. Isolation of Disease Genes Through Genomics -- 2. Advances in Genome Analysis: Discovery of Structural Variation and Genomic Dosage Differences in Health and Disease -- 3. Significance of DNA Sequence Changes for Diagnosis and Therapy -- 4. Epigenetics -- 5. Complex Diseases: Molecular Genetic Contributions to Elucidation of Etiopathogenesis of Late-Onset Neurodegenerative Diseases -- 6. Advances in Treatment of Single Gene Disorders Through Translational Science: Treatment With Small Molecules (Chaperones) and Gene-Based Therapies -- 7. From Gene Discovery in Genetic Syndromes to Identification of Therapeutic Agents -- 8. Impact of the Environment on the Genome -- 9. Molecular Defects in Cancer: Application to Therapy -- 10. Pharmacogenetics and Pharmacogenomics -- 11. Phenomes, Phenotypes, and Clinical Genetic Services -- References -- Index -- A -- B -- C -- D -- E -- F -- G -- H -- I -- J -- K -- L -- M -- N -- O -- P -- R -- S -- T -- U -- V -- W -- X -- Y.
410  0$aOxford scholarship online.
606   $aMedical genetics
606   $aGenomics
615  0$aMedical genetics.
615  0$aGenomics.
676   $a616/.042
700   $aSmith$b Moyra$01130727
801  0$bMiAaPQ
801  1$bMiAaPQ
801  2$bMiAaPQ
906   $aBOOK
912   $a9910823405303321
996   $aTranslational research in genetics and genomics$94011904
997   $aUNINA