Translational research in genetics and genomics /:
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...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Elektronisch E-Book |
| Sprache: | English |
| Veröffentlicht: |
Oxford ; New York :
Oxford University Press,
2008.
|
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Zusammenfassung: | 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. |
| Beschreibung: | 1 online resource (xiv, 220 pages) : illustrations |
| Bibliographie: | Includes bibliographical references (pages 179-206) and index. |
| ISBN: | 9780199718344 0199718342 0195313763 9780195313765 1282544187 9781282544185 9786612544187 661254418X |
Internformat
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| 245 | 1 | 0 | |a Translational research in genetics and genomics / |c Moyra Smith. |
| 260 | |a Oxford ; |a New York : |b Oxford University Press, |c 2008. | ||
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| 504 | |a Includes bibliographical references (pages 179-206) and index. | ||
| 505 | 0 | |a 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. | |
| 588 | 0 | |a Print version record. | |
| 520 | |a 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. | ||
| 546 | |a English. | ||
| 650 | 0 | |a Medical genetics. |0 http://id.loc.gov/authorities/subjects/sh85082937 | |
| 650 | 0 | |a Genomics. |0 http://id.loc.gov/authorities/subjects/sh2002000809 | |
| 650 | 0 | |a Genetic disorders. |0 http://id.loc.gov/authorities/subjects/sh87001834 | |
| 650 | 2 | |a Genetics, Medical | |
| 650 | 2 | |a Genetic Diseases, Inborn | |
| 650 | 2 | |a Genomics | |
| 650 | 6 | |a Génétique médicale. | |
| 650 | 6 | |a Génomique. | |
| 650 | 6 | |a Maladies génétiques. | |
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| 776 | 0 | 8 | |i Print version: |a Smith, Moyra. |t Translational research in genetics and genomics. |d Oxford ; New York : Oxford University Press, 2008 |z 9780195313765 |w (DLC) 2007037252 |w (OCoLC)171258242 |
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| callnumber-first | R - Medicine |
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| contents | 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. |
| ctrlnum | (OCoLC)607552662 |
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| dewey-raw | 616/.042 |
| dewey-search | 616/.042 |
| dewey-sort | 3616 242 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Electronic eBook |
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| id | ZDB-4-EBA-ocn607552662 |
| illustrated | Illustrated |
| indexdate | 2024-11-27T13:17:07Z |
| institution | BVB |
| isbn | 9780199718344 0199718342 0195313763 9780195313765 1282544187 9781282544185 9786612544187 661254418X |
| language | English |
| oclc_num | 607552662 |
| open_access_boolean | |
| owner | MAIN DE-863 DE-BY-FWS |
| owner_facet | MAIN DE-863 DE-BY-FWS |
| physical | 1 online resource (xiv, 220 pages) : illustrations |
| psigel | ZDB-4-EBA |
| publishDate | 2008 |
| publishDateSearch | 2008 |
| publishDateSort | 2008 |
| publisher | Oxford University Press, |
| record_format | marc |
| spelling | Smith, Moyra. Translational research in genetics and genomics / Moyra Smith. Oxford ; New York : Oxford University Press, 2008. 1 online resource (xiv, 220 pages) : illustrations text txt rdacontent computer c rdamedia online resource cr rdacarrier Includes bibliographical references (pages 179-206) and index. 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. Print version record. 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. English. Medical genetics. http://id.loc.gov/authorities/subjects/sh85082937 Genomics. http://id.loc.gov/authorities/subjects/sh2002000809 Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Genetics, Medical Genetic Diseases, Inborn Genomics Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases Genetic. bisacsh MEDICAL Genetics. bisacsh Genetic disorders fast Genomics fast Medical genetics fast has work: Translational research in genetics and genomics (Text) https://id.oclc.org/worldcat/entity/E39PCGDGDkyHxTMk4m3qdk8Cry https://id.oclc.org/worldcat/ontology/hasWork Print version: Smith, Moyra. Translational research in genetics and genomics. Oxford ; New York : Oxford University Press, 2008 9780195313765 (DLC) 2007037252 (OCoLC)171258242 FWS01 ZDB-4-EBA FWS_PDA_EBA https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=315335 Volltext |
| spellingShingle | Smith, Moyra Translational research in genetics and genomics / 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. Medical genetics. http://id.loc.gov/authorities/subjects/sh85082937 Genomics. http://id.loc.gov/authorities/subjects/sh2002000809 Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Genetics, Medical Genetic Diseases, Inborn Genomics Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases Genetic. bisacsh MEDICAL Genetics. bisacsh Genetic disorders fast Genomics fast Medical genetics fast |
| subject_GND | http://id.loc.gov/authorities/subjects/sh85082937 http://id.loc.gov/authorities/subjects/sh2002000809 http://id.loc.gov/authorities/subjects/sh87001834 |
| title | Translational research in genetics and genomics / |
| title_auth | Translational research in genetics and genomics / |
| title_exact_search | Translational research in genetics and genomics / |
| title_full | Translational research in genetics and genomics / Moyra Smith. |
| title_fullStr | Translational research in genetics and genomics / Moyra Smith. |
| title_full_unstemmed | Translational research in genetics and genomics / Moyra Smith. |
| title_short | Translational research in genetics and genomics / |
| title_sort | translational research in genetics and genomics |
| topic | Medical genetics. http://id.loc.gov/authorities/subjects/sh85082937 Genomics. http://id.loc.gov/authorities/subjects/sh2002000809 Genetic disorders. http://id.loc.gov/authorities/subjects/sh87001834 Genetics, Medical Genetic Diseases, Inborn Genomics Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases Genetic. bisacsh MEDICAL Genetics. bisacsh Genetic disorders fast Genomics fast Medical genetics fast |
| topic_facet | Medical genetics. Genomics. Genetic disorders. Genetics, Medical Genetic Diseases, Inborn Genomics Génétique médicale. Génomique. Maladies génétiques. HEALTH & FITNESS Diseases Genetic. MEDICAL Genetics. Genetic disorders Medical genetics |
| url | https://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&AN=315335 |
| work_keys_str_mv | AT smithmoyra translationalresearchingeneticsandgenomics |