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  • 1
    Online Resource
    Online Resource
    London :Academic Press,
    UID:
    almahu_9948026530402882
    Format: 1 online resource (xvi, 341 pages) : , illustrations (some color)
    ISBN: 0-12-799922-1
    Series Statement: Gale eBooks
    Content: This book "examines the impact of clinical genomics across an array of public and community health issues, and within a variety of global healthcare systems offering concise, evidence-based technical and practical information on applied and translational aspects of genome sciences and technologies related to clinical medicine and public health"--
    Note: 1. The human genome / D. Kumar -- 2. Genomic technologies in medicine and health : past, present and future / Y.-H. Rogers and C. Zhang -- 3. Genomic databases, access review, and data access committees / M. Shabani, B.M. Knoppers and P. Borry -- 4. Diagnostic genomics and clinical bioinformatics / A. Haworth, H. Savage and N. Lench -- 5. Epigenetics and epigenomics in human health and disease / R. Festenstein -- 6. Mitochondrial genomics : emerging paradigms and challenges / V. Singh, P. Gupta, N.K. Rajput and A. Bhardwaj -- 7. The significance of metabolomics in human health / D.F. Gomez-Casati, M. Grisolía and M.V. Busi -- 8. Microbial genomics : diagnosis, prevention and treatment / A. Mutreja -- 9. A metagenomic insight into human microbiome : its implications in health and disease / R. Saxena and V.K. Sharma -- 10. Pharmacogenetics and pharmacogenomics / A. Alfirevic and M. Pirmohamed -- 11. Medical and health aspects of genetics and genomics / D. Kumar -- 12. Content and variation of the human genome / S. E. Antonarakis -- 13. Spectrum of genetic diseases and management / B. Kerr -- 14. Genomic analysis in clinical practice : what are the challenges? / A. Lucassen and I. van Langen -- 15. Genomic perspective of genetic counselling / C.L. Gaff and I. Macciocca -- 16. Genetics and genomics of reproductive medicine and health / D. Kumar -- 17. Stratified and precision medicine / D. Kumar -- 18. Teaching and training medicine in genomic era / B. Korf -- 19. Genomics, new drug development and precision medicines / D. McHale and M. Penny -- 20. Cancer genetics and genomics / J. Whitworth and E. Maher -- 21. The provision of medical and health genetics and genomics in the developing world / N. Sirisena, D. Sumathipala, K. Wettasinghe and V.H.W. Dissanayake -- 22. Genomic applications in forensic medicine / C. Børsting and N. Morling -- 23. Public and population health genomics / A. L. Wise and T.A. Manolio.
    Additional Edition: ISBN 0-12-420196-2
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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  • 2
    UID:
    almahu_9948196695402882
    Format: 1 online resource (xiv, 285 pages) : , illustrations
    Edition: Electronic reproduction. [Place of publication not identified] : HathiTrust Digital Library, 2010.
    ISBN: 0471459135 , 9780471459132 , 0471221937 , 9780471221937
    Content: This authoritative publication offers a rigorous clinical and molecular perspective on genomic imprinting and uniparental disomy (UPD), including a practical description of the laboratory tests used to assess relevant disorders. This work provides a full synopsis and discussion of genomic imprinting and helps to unravel the explosion of research advances since the discovery of UPD.
    Note: Errata slip inserted. , Genomic Imprinting and Uniparental Disomy in Medicine; Contents; Foreword; Preface; Acknowledgments; Chapter 1 Introduction; Chapter 2 Detection of Uniparental Disomy and Imprinting by DNA Analysis; Chapter 3 Mechanisms Generating Uniparently Disomy and Genomic Imprinting Disorders; Chapter 4 Uniparental Disomy for Individual Human Chromosomes: Review of Cases; Chapter 5 ''Old'' and ''New'' Syndromes with Uniparental Disomy; Chapter 6 The Prader-(Labhardt)-Willi Syndrome; Chapter 7 The Angelman Syndrome (AS); Chapter 8 The Beckwith-Wiedemann Syndrome (BWS). , Chapter 9 Genetic Counseling and Prenatal DiagnosisChapter 10 Genomic Imprinting in the Mouse; Chapter 11 Epilogue of an Unfinished Story; Index. , Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002.
    Additional Edition: Print version: Engel, Eric, Dr. Genomic imprinting and uniparental disomy in medicine. New York : Wiley-Liss, ©2002 ISBN 0471351261
    Language: English
    Keywords: Electronic books. ; Electronic books. ; Electronic books.
    Library Location Call Number Volume/Issue/Year Availability
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  • 3
    UID:
    almahu_9949419306302882
    Format: LIII, 981 p. , online resource.
    Edition: 4th ed. 2010.
    ISBN: 9783540376545
    Content: The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition a multi/chapter section giving an overview on the main model organisms (mouse, dog, worm, fly, fish) used in human genetics research has been introduced. This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field.
    Note: History of Human Genetics* -- Human Genome Sequence and Variation -- Chromosomes -- From Genes to Genomics to Proteomics -- Formal Genetics of Humans: Modes of Inheritance* -- Linkage Analysis for Monogenic Traits -- Oligogenic Disease -- Formal Genetics of Humans: Multifactorial Inheritance and Common Diseases -- Lessons from the Genome-Wide Association Studies for Complex Multifactorial Disorders and Traits -- Epigenetics -- Human Gene Mutation: Mechanisms and Consequences -- Human Hemoglobin -- Human Genetics of Infectious Diseases -- Gene Action: Developmental Genetics -- Cancer Genetics -- The Role of the Epigenome in Human Cancers -- Population Genetic Principles and Human Populations -- Consanguinity, Genetic Drift, and Genetic Diseases in Populations with Reduced Numbers of Founders -- Human Evolution -- Comparative Genomics -- Genetics and Genomics of Human Population Structure -- Genetic Epidemiology -- Pharmacogenetics -- Behavioral Genetics -- The Genetics of Personality -- Mental Retardation and Intellectual Disability -- Genetic Factors in Alzheimer Disease and Dementia -- Genetics of Autism -- The Genetics of Alcoholism and Other Addictive Disorders -- Behavioral Aspects of Chromosomal Variants -- Geneties of Schizophrenia and Bipolar Affective Disorder -- Model Organisms for Human Disorders -- Mouse as a Model for Human Disease -- Caenorhabditis elegans, A Simple Worm: Bridging the Gap Between Traditional and Systems-Level Biology -- Drosophila as a Model for Human Disease -- Human Genetics and the Canine System -- Fish as a Model for Human Disease -- Genetic Counseling and Prenatal Diagnosis -- Gene Therapy -- Cloning in Research and Treatment of Human Genetic Disease -- Genetic Medicine and Global Health -- Genetic Databases -- Databases and Genome Browsers -- Ensembl Genome Browser -- Databases in Human and Medical Genetics.
    In: Springer Nature eBook
    Additional Edition: Printed edition: ISBN 9783540862338
    Additional Edition: Printed edition: ISBN 9783540376538
    Additional Edition: Printed edition: ISBN 9783662517314
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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  • 4
    Online Resource
    Online Resource
    Berlin, Heidelberg : Springer-Verlag Berlin Heidelberg
    UID:
    gbv_1650407491
    Format: Online-Ressource
    ISBN: 9783540376545
    Series Statement: SpringerLink
    Additional Edition: ISBN 9783540376538
    Additional Edition: Buchausg. u.d.T. Vogel and Motulsky's human genetics Berlin : Springer, 2010 ISBN 9783540376538
    Language: English
    Subjects: Biology
    RVK:
    Keywords: Humangenetik ; Erbkrankheit ; Humangenetik ; Erbkrankheit
    URL: Volltext  (lizenzpflichtig)
    URL: Cover
    Library Location Call Number Volume/Issue/Year Availability
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  • 5
    Online Resource
    Online Resource
    London :Academic Press,
    UID:
    edoccha_9960073807402883
    Format: 1 online resource (xvi, 341 pages) : , illustrations (some color)
    ISBN: 0-12-799922-1
    Series Statement: Gale eBooks
    Content: This book "examines the impact of clinical genomics across an array of public and community health issues, and within a variety of global healthcare systems offering concise, evidence-based technical and practical information on applied and translational aspects of genome sciences and technologies related to clinical medicine and public health"--
    Note: 1. The human genome / D. Kumar -- 2. Genomic technologies in medicine and health : past, present and future / Y.-H. Rogers and C. Zhang -- 3. Genomic databases, access review, and data access committees / M. Shabani, B.M. Knoppers and P. Borry -- 4. Diagnostic genomics and clinical bioinformatics / A. Haworth, H. Savage and N. Lench -- 5. Epigenetics and epigenomics in human health and disease / R. Festenstein -- 6. Mitochondrial genomics : emerging paradigms and challenges / V. Singh, P. Gupta, N.K. Rajput and A. Bhardwaj -- 7. The significance of metabolomics in human health / D.F. Gomez-Casati, M. Grisolía and M.V. Busi -- 8. Microbial genomics : diagnosis, prevention and treatment / A. Mutreja -- 9. A metagenomic insight into human microbiome : its implications in health and disease / R. Saxena and V.K. Sharma -- 10. Pharmacogenetics and pharmacogenomics / A. Alfirevic and M. Pirmohamed -- 11. Medical and health aspects of genetics and genomics / D. Kumar -- 12. Content and variation of the human genome / S. E. Antonarakis -- 13. Spectrum of genetic diseases and management / B. Kerr -- 14. Genomic analysis in clinical practice : what are the challenges? / A. Lucassen and I. van Langen -- 15. Genomic perspective of genetic counselling / C.L. Gaff and I. Macciocca -- 16. Genetics and genomics of reproductive medicine and health / D. Kumar -- 17. Stratified and precision medicine / D. Kumar -- 18. Teaching and training medicine in genomic era / B. Korf -- 19. Genomics, new drug development and precision medicines / D. McHale and M. Penny -- 20. Cancer genetics and genomics / J. Whitworth and E. Maher -- 21. The provision of medical and health genetics and genomics in the developing world / N. Sirisena, D. Sumathipala, K. Wettasinghe and V.H.W. Dissanayake -- 22. Genomic applications in forensic medicine / C. Børsting and N. Morling -- 23. Public and population health genomics / A. L. Wise and T.A. Manolio.
    Additional Edition: ISBN 0-12-420196-2
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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  • 6
    Online Resource
    Online Resource
    London :Academic Press,
    UID:
    edocfu_9960073807402883
    Format: 1 online resource (xvi, 341 pages) : , illustrations (some color)
    ISBN: 0-12-799922-1
    Series Statement: Gale eBooks
    Content: This book "examines the impact of clinical genomics across an array of public and community health issues, and within a variety of global healthcare systems offering concise, evidence-based technical and practical information on applied and translational aspects of genome sciences and technologies related to clinical medicine and public health"--
    Note: 1. The human genome / D. Kumar -- 2. Genomic technologies in medicine and health : past, present and future / Y.-H. Rogers and C. Zhang -- 3. Genomic databases, access review, and data access committees / M. Shabani, B.M. Knoppers and P. Borry -- 4. Diagnostic genomics and clinical bioinformatics / A. Haworth, H. Savage and N. Lench -- 5. Epigenetics and epigenomics in human health and disease / R. Festenstein -- 6. Mitochondrial genomics : emerging paradigms and challenges / V. Singh, P. Gupta, N.K. Rajput and A. Bhardwaj -- 7. The significance of metabolomics in human health / D.F. Gomez-Casati, M. Grisolía and M.V. Busi -- 8. Microbial genomics : diagnosis, prevention and treatment / A. Mutreja -- 9. A metagenomic insight into human microbiome : its implications in health and disease / R. Saxena and V.K. Sharma -- 10. Pharmacogenetics and pharmacogenomics / A. Alfirevic and M. Pirmohamed -- 11. Medical and health aspects of genetics and genomics / D. Kumar -- 12. Content and variation of the human genome / S. E. Antonarakis -- 13. Spectrum of genetic diseases and management / B. Kerr -- 14. Genomic analysis in clinical practice : what are the challenges? / A. Lucassen and I. van Langen -- 15. Genomic perspective of genetic counselling / C.L. Gaff and I. Macciocca -- 16. Genetics and genomics of reproductive medicine and health / D. Kumar -- 17. Stratified and precision medicine / D. Kumar -- 18. Teaching and training medicine in genomic era / B. Korf -- 19. Genomics, new drug development and precision medicines / D. McHale and M. Penny -- 20. Cancer genetics and genomics / J. Whitworth and E. Maher -- 21. The provision of medical and health genetics and genomics in the developing world / N. Sirisena, D. Sumathipala, K. Wettasinghe and V.H.W. Dissanayake -- 22. Genomic applications in forensic medicine / C. Børsting and N. Morling -- 23. Public and population health genomics / A. L. Wise and T.A. Manolio.
    Additional Edition: ISBN 0-12-420196-2
    Language: English
    Library Location Call Number Volume/Issue/Year Availability
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