東華大學圖書館 |

Emery and Rimoin's principles and practice of medical genetics and genomics.. Foundations

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Emery and Rimoin's principles and practice of medical genetics and genomics./ edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
其他題名:	Foundations
其他作者:	Pyeritz, Reed E.,
出版者:	London, U.K. :Academic Press is an imprint of Elsevier, : 2019.,
面頁冊數:	1 online resource (lxiii, 507 p.) :ill. (some col.), ports.
附註:	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].
內容註:	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.
標題:	Medical genetics. -
電子資源:	https://www.sciencedirect.com/science/book/9780128125373
ISBN:	9780128126851 (electronic bk.)

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.Foundations[electronic resource] /Foundationsedited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. - Seventh edition. - London, U.K. :Academic Press is an imprint of Elsevier,2019. - 1 online resource (lxiii, 507 p.) :ill. (some col.), ports.

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 propellingprecision 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.

ISBN: 9780128126851 (electronic bk.)Subjects--Topical Terms:

651823
Medical genetics.
Index Terms--Genre/Form:

542853
Electronic books.

LC Class. No.: RB155

Dewey Class. No.: 616.042

National Library of Medicine Call No.: QZ 50

Emery and Rimoin's principles and practice of medical genetics and genomics.. Foundations
LDR:04273cmm a2200349 a 4500 001 2246327
006 m o d
007 cr |||||||||||
008 211223s2019 enkac gob 001 0 eng d
020 $a 9780128126851 (electronic bk.)
020 $a 012812685X (electronic bk.)
020 $a 9780128125373 (hardback)
020 $a 0128125373 (hardback)
035 $a (OCoLC)1076269081
035 $a on1076269081
040 $a N$T $b eng $c N$T $d OPELS $d N$T $d MMU $d OCLCO $d TMC $d MMU $d OCLCA $d STF $d OCLCO $d MERER $d OPELS $d OCLCO $d CASUM $d UUM $d LQU $d S2H $d OCLCO $d REDDC $d VT2 $d OCLCA
041 0 $a eng
050 4 $a RB155
060 4 $a QZ 50
082 0 4 $a 616.042
082 0 4 $a 616/.042 $2 23
245 0 0 $a Emery and Rimoin's principles and practice of medical genetics and genomics. $p Foundations $h [electronic resource] / $c edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
246 3 0 $a Foundations
246 3 $a Principles and practice of medical genetics and genomics
250 $a Seventh edition.
260 $a London, U.K. : $b Academic Press is an imprint of Elsevier, $c 2019.
300 $a 1 online resource (lxiii, 507 p.) : $b ill. (some col.), ports.
500 $a 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].
504 $a Includes bibliographical references and index.
505 0 $a 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.
520 $a "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 propellingprecision 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.
588 $a Description based on online resource; title from electronic title page (ScienceDirect, viewed December 12, 2018).
650 0 $a Medical genetics. $3 651823
650 1 2 $a Genetics, Medical. $3 753773
650 2 2 $a Genetic Diseases, Inborn. $3 841776
650 7 $a HEALTH & FITNESS / Diseases / General. $2 bisacsh $3 1598405
650 7 $a MEDICAL / Clinical Medicine. $2 bisacsh $3 3413673
650 7 $a MEDICAL / Diseases. $2 bisacsh $3 2152518
650 7 $a MEDICAL / Evidence-Based Medicine. $2 bisacsh $3 3509522
650 7 $a MEDICAL / Internal Medicine. $2 bisacsh $3 3509523
655 0 $a Electronic books. $2 lcsh $3 542853
700 1 $a Pyeritz, Reed E., $e editor. $3 3462564
700 1 $a Korf, Bruce R., $e editor. $3 3462565
700 1 $a Grody, Wayne W., $e editor. $3 3462566
730 0 $i Companion to: $a Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications. [2019] $3 3509690
856 4 0 $u https://www.sciencedirect.com/science/book/9780128125373