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  • Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Foundations

    Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by Pyeritz, Reed E.; Korf, Bruce R.; Grody, Wayne W.;

    Foundations

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      • Publisher's listprice EUR 110.00
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        45 622 Ft (43 450 Ft + 5% VAT)
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    45 622 Ft

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    Product details:

    • Edition number 7
    • Publisher Elsevier Science
    • Date of Publication 29 November 2018

    • ISBN 9780128125373
    • Binding Hardback
    • No. of pages572 pages
    • Size 234x190 mm
    • Weight 1290 g
    • Language English
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    Long description:

    For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.

    This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics.

    With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

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    Table of Contents:

    1. Medicine in a Genetic and Genomic Context
    Reed E. Pyeritz

    2. Foundations and Application of Precision Medicine
    Geoffrey S. Ginsburg and Susanne B. Haga

    3. Nature and Frequency of Genetic Disease
    Bruce R. Korf, Reed E. Pyeritz and Wayne W. Grody

    4. Genome and Gene Structure
    Madhuri R. Hegde and Michael R. Crowley

    5. Epigenetics
    Rosanna Weksberg, Darci T. Butcher, Cheryl Cytrynbaum, Michelle T. Siu, Sanaa Choufani and Benjamin Tycko

    6. Human Genomic Variants and Inherited Disease: Molecular Mechanisms and Clinical Consequences
    Stylianos E. Antonarakis and David N. Cooper

    7. Genes in Families
    Jackie Cook

    8. Analysis of Genetic Linkage
    Rita M. Cantor

    9. Chromosomal Basis of Inheritance
    Fady M. Mikhail

    10 Mitochondrial Biology and Medicine
    Douglas C. Wallace, Marie T. Lott and Vincent Procaccio

    11. Multifactorial Inheritance and Complex Diseases
    Allison Fialkowski, T. Mark Beasley and Hemant K. Tiwari

    12. Population Genetics
    H. Richard Johnston, Bronya J.B. Keats and Stephanie L. Sherman

    13. Pathogenetics of Disease
    Reed E. Pyeritz

    14. Twins and Twinning
    Mark P. Umstad, Lucas Calais-Ferreira, Katrina J. Scurrah, Judith G. Hall and Jeffrey M. Craig

    15. The Biological Basis of Aging: Implications for Medical Genetics
    Junko Oshima, Fuki M. Hisama and George M. Martin

    16. Pharmacogenomics
    Daniel W. Nebert and Ge Zhang

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