| Description |
1 online resource (lxiii, 507 pages) : illustrations (some color), portraits |
| Contents |
History of medical genetics -- Medicine in a genetic context -- Precision medicine -- Nature and frequency of genetic disease -- Genome and gene structure -- Genome structure -- Epigenetics -- Human gene mutation in inherited disease: molecular mechanisms and clinical consequences -- Genes in families -- Analysis of genetic linkage -- Chromosomal basis of inheritance -- Mitochondrial medicine: the mitochondrial biology and genetics of metabolic and degenerative diseases, cancer, and aging -- Mitochondrial biology -- split of above chapter -- Mitochondrial disorders -- split of above chapter -- Multifactorial inheritance and complex diseases -- Immunologic disorders: autoimmunity: genetics and immunologic mechanisms -- Population genetics -- Pathogenetics of disease -- Twins and twinning -- The biological basis of aging: implications for medical genetics -- Pharmacogenetics and pharmacogenomics |
| Summary |
"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"--Publisher's description |
| Notes |
Companion volume to Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019] |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Online resource; title from electronic title page (ScienceDirect, viewed December 12, 2018) |
| Subject |
Medical genetics.
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Genetic disorders.
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Genetics, Medical
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Genetic Diseases, Inborn
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Genetic disorders
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Medical genetics
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| Form |
Electronic book
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| Author |
Pyeritz, Reed E., editor
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Korf, Bruce R., editor
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Grody, Wayne W., editor
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| ISBN |
9780128126851 |
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012812685X |
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