Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications 医学遗传学和基因组学原理与实践 英文原版PDF

几十年来，Emery和Rimoin的《医学遗传学和基因组学原理与实践》一直是临床医生将遗传学融入医学实践的终极资源。这本经典参考书的第七版详细收录了250多位世界上最值得信赖的医学遗传学权威人士的文章，并有11卷可供单独销售，其中包括产前诊断、基因组和外显子组测序、公共卫生遗传学、遗传咨询、管理和治疗策略等开创性主题的最新信息，为医学生、住院医师、医生和从事遗传病患者护理的研究人员提供了这一不断发展的领域的完整内容。这本全面而又实用的资源强调了与医学遗传学在全谱系遗传性疾病中的应用以及更广泛的医学应用相关的理论和研究基础。

《临床原理与应用》全面阐述了遗传咨询、遗传诊断、治疗途径和药物发现的一般方法和途径。此外，新的和更新的章节探讨了基因组技术、分析和治疗的临床实施，特别关注发展中的技术、常见的挑战、患者护理以及伦理和法律方面。

随着基因组技术的定期进步，推动精准医疗进入临床，第七版Emery和Rimoin的《医学遗传学和基因组学原理与实践》弥补了高层次分子遗传学与实际应用之间的差距，是卫生专业人员和研究人员的宝贵临床工具。

新版全面修订并更新，向遗传研究人员、学生和卫生专业人员介绍了遗传咨询、遗传和基因组诊断、治疗途径、药物发现的一般原则，以及基因组技术、分析和治疗在临床实践中的应用。

研究临床基因组学内的关键主题和发展中领域，包括患者的基因评估、临床试验和药物发现、基因健康记录、细胞遗传分析、诊断性分子遗传学、小分子遗传治疗学、基因产品替代、临床畸形学、移植遗传学以及基因组医学的伦理和法律问题。

包括支持识别、概念说明、方法处理的彩色图像。

由国际领先的医学遗传学研究人员和从业人员撰写文章。

For decades,Emery and Rimoin's Principles and Practice of Medical Genetics and Genomicshas 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 Applicationsthoroughly 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 ofEmery and Rimoin's Principles and Practice of Medical Genetics and Genomicsbridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.

Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice

Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine
Includes color images supporting identification, concept illustration, and method processing

Features contributions by leading international researchers and practitioners of medical genetics