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

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

    Clinical Principles and Applications

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      • Publisher's listprice EUR 110.00
      • The price is estimated because at the time of ordering we do not know what conversion rates will apply to HUF / product currency when the book arrives. In case HUF is weaker, the price increases slightly, in case HUF is stronger, the price goes lower slightly.

        45 622 Ft (43 450 Ft + 5% VAT)
      • Discount 10% (cc. 4 562 Ft off)
      • Discounted price 41 060 Ft (39 105 Ft + 5% VAT)

    45 622 Ft

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    printed on demand

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    Product details:

    • Edition number 7
    • Publisher Elsevier Science
    • Date of Publication 23 November 2018

    • ISBN 9780128125366
    • Binding Hardback
    • No. of pages412 pages
    • Size 234x190 mm
    • Weight 1000 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.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics 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. A Clinical Approach to the Dysmorphic Child
    2. Clinical Teratology
    3. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism
    4. Abnormal Body Size and Proportion
    5. Cytogenetic Analysis
    6. Diagnostic Molecular Genetics
    7. Therapies for Lysosomal Storage Diseases
    8. Transplantation Genetics
    9. Genetic Evaluation for Common, Chronic Disorders of Adulthood 265
    10. Carrier Screening and Heterozygote Testing
    11. Circadian Rhythms and Disease
    12. The Genomic Health Record: Current Status and Vision for the Future
    13. Ethical and Social Issues in Clinical Genetics
    14. Genetics and Genomics in Public Health
    15. Implementation of Genomic Medicine: An International Perspective

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