Thompson & Thompson genetics and genomics in medicine / [edited by] Ronald Doron Cohn, Stephen W. Scherer, Ada Hamosh.
- 其他作者：
- 其他題名：
- Thompson and Thompson genetics and genomics in medicine.
- Genetics and genomics in medicine.
- 出版： Philadelphia, PA : Elsevier c2024.
- 主題： Medical genetics. , Genomics. , Genetics, Medical. , Genomics.
- 版本：Ninth edition.
- ISBN： 9780323547628 (pbk): NT3000 、 0323547621
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- 一般註：Originally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson. Previous edition: 2016 published under title: Thompson & Thompson genetics in medicine. Includes bibliographical references and index. Introduction / Ada Hamosh, Stephen W. Scherer, Ronald Doron Cohn -- Introduction to the human genome / Ada Hamosh, Stephen W. Scherer -- The human genome : Gene structure and function / Stephen W. Scherer -- Human genetic diversity : Genomic variation / Stephen W. Scherer, Ada Hamosh -- Principles of clinical cytogenetics and genome analysis / Dimitri J. Stavropoulos -- The chromosomal and genomic basis of disease : Disorders of the autosomes and sex chromosomes / Feyza Yilmaz, Christine R. Beck, Charles Lee -- Patterns of single-gene inheritance / Neal Sondheimer -- Principles of clinical epigenetics / Sarah Goodman, Cheryl Cytrynbaum, Rosanna Weksberg -- Complex inheritance of common multifactorial disorders / Cristen J. Willer, Gonçalo R. Abecasis -- Population genetics for genomic medicine / Alice B. Popejoy -- Identifying the genetic basis for human disease / Christian R. Marshall -- The molecular basis of genetic disease / Gregory Costain -- The molecular, biochemical, and cellular basis of genetic disease / Ada Hamosh -- The treatment of genetic disease / Ronald Doron Cohn, Ada Hamosh -- Developmental genetics and birth defects / Anthony Wynshaw-Boris, Ophir Klein -- Cancer genetics and genomics / Michael F. Walsh -- Genetic counseling and risk assessment / Carolyn Dinsmore Applegate, Jodie Marie Vento -- Preconception and prenatal screening and diagnosis / Angie Child Jelin, Ignatia B. Van den Veyver -- Application of genomics to medicine and individualized health care / Ronald Doron Cohn, Iris Cohn -- Ethical and social issues in genetics and genomics / Bartha Maria Knoppers, Ma'n H. Zawati -- Clinical case studies illustrating genetic principles / Janet A. Buchanan -- Glossary -- Answers to problems. 買紙本送電子,請上ERMG使用,若新版圖書已上巿,則舊版電子書立即失效
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讀者標籤：
- 系統號： 000307202 | 機讀編目格式
館藏資訊
First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over. Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries-such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics-latest technologies, and new diagnoses they are enabling. Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors. Support groups have also assisted to update illustrations featuring beautiful images of those living with genetic conditions. Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies Full-color text, illustrations, updated line diagrams, and clinical photos End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations USMLE-style and multiple choice questions available as part of the eBook An enhanced eBook version is included with purchase. The eBook allows you to access all the text, figures and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud Updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions New chapter on Epigenetics Clearer and more precise terminology, in response to contemporary and evolving guidelines New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management.
摘要註
"Comprehensive guide to the fundamentals of human genetics and genomics. First published in 1966, 'Thompson & Thompson Genetics and Genomics in Medicine' has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over. Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries, such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics ; latest technologies ; and new diagnoses they are enabling. Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors. Support groups have also assisted to update illustrations featuring beautiful images of those living with genetic conditions. You will find : comprehensive coverage of genomes in biology and medicine, copy number and structural genomic variation, novel discoveries, latest technology, and new genetic diagnoses ; over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies ; full-color text, illustrations, updated line diagrams, and clinical photos ; end-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations. New to this edition : updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure ; new content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions ; new chapter on Epigenetics ; clearer and more precise terminology in response to contemporary and evolving guidelines ; new sections describing the use of (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management."--