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Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics (7th Ed.) Clinical Principles and Applications

Langue : Anglais

Coordonnateurs : Pyeritz Reed E., Korf Bruce R., Grody Wayne W.

Couverture de l’ouvrage Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

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 nearly 5,000 pages of detailed coverage, 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 Applications thoroughly 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, 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



  • 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
  • A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

1. Genetic Evaluation for Common Diseases of Adulthood 3. Cytogenetic Analysis 4. Diagnostic Molecular Genetics 5. Heterozygote Testing and Carrier Screening 6. Circadian Biology 7. Genetics of intelligence 8. Therapies for Lysosomal Storage Diseases 9. Gene Product Replacement 10. Small Molecule Therapeutics for Genetic Disorders 11. Cinical Trials and Drug Discovery  12. Genetic health records 13. The Genetics of Personality 14. Ethical and Social Issues in Clinical Genetics 15. International Genomic Medicine Implementation 16. Benefits of Genetic Services for Public Health  17. Legal Issues in Genetic Medicine

Section 2 18. Genetics of Female Infertility in Humans 19. Genetics of Male Infertility 20. Genetics of Sexual Development  21. A Clinical Approach to the Dysmorphic Child 22. Rasopathies 23. Clinical Teratology 24. Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism 25. Abnormal Body Size and Proportion 26. The Microbiome 21. Transplantation Genetics

Students, physicians, and researchers in the field of medical genetics and personalized medicine; medical practitioners across medical disciplines as well as systems biology, molecular medicine, and genetic epidemiology; genetic counselors; genetic researchers in industry and pharma

Date de parution :

Ouvrage de 448 p.

19.1x23.5 cm

Disponible chez l'éditeur (délai d'approvisionnement : 14 jours).

121,37 €

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