05894cam a2200673Ii 4500 on1076269081 OCoLC 20210423014334.0 m o d cr ||||||||||| 181126t20192019enkac ob 001 0 eng d N$T eng rda pn N$T OPELS N$T MMU OCLCO TMC MMU OCLCA STF OCLCO MERER OPELS OCLCO CASUM UUM LQU S2H OCLCO REDDC VT2 OCLCA 1101393307 1105178708 1105568824 1229131039 1235840210 9780128126851 electronic bk. 012812685X electronic bk. 9780128125373 hardcover 0128125373 hardcover (OCoLC)1076269081 (OCoLC)1101393307 (OCoLC)1105178708 (OCoLC)1105568824 (OCoLC)1229131039 (OCoLC)1235840210 RB155 QZ 50 HEA 039000 bisacsh MED 014000 bisacsh MED 022000 bisacsh MED 112000 bisacsh MED 045000 bisacsh 616.042 616/.042 23 Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Foundations Principles and practice of medical genetics and genomics Seventh edition. London, U.K. : Academic Press is an imprint of Elsevier, [2019] Ã2019 1 online resource (lxiii, 507 pages) : illustrations (some color), portraits text txt rdacontent computer c rdamedia online resource cr rdacarrier 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]. Includes bibliographical references and index. 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. "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. Description based on online resource; title from electronic title page (ScienceDirect, viewed December 12, 2018). Medical genetics. Genetics, Medical. (DNLM)D005826 Genetic Diseases, Inborn. (DNLM)D030342 HEALTH & FITNESS / Diseases / General. bisacsh MEDICAL / Clinical Medicine. bisacsh MEDICAL / Diseases. bisacsh MEDICAL / Evidence-Based Medicine. bisacsh MEDICAL / Internal Medicine. bisacsh Medical genetics. fast (OCoLC)fst01014133 Electronic books. Electronic books. Pyeritz, Reed E., editor. Korf, Bruce R., editor. Grody, Wayne W., editor. Companion to: Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications. [2019] Print version: Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations London : Academic Press is an imprint of Elsevier, [2019] 0128125373 (OCoLC)1031946734 ScienceDirect https://www.sciencedirect.com/science/book/9780128125373