Thompson and Thompson genetics in medicine
Cohn, Ronald Doron (Éditeur intellectuel) 1966- / Scherer, Stephen W. (Éditeur intellectuel) 1964- / Hamosh, Ada (Éditeur intellectuel)
9th edition
2024
1 ressource en ligne (xxv, 630 pages) : illustrations
Format PDF
9780323547628
Anglais
1. Introduction -- 2. Introduction to the Human Genome -- 3. The Human Genome : Gene Structure and Function -- 4. Human Genetic Diversity : Human Genetic Diversity: Genomic Variation -- 5. Principles of Clinical Cytogenetics and Genome Analysis -- 6. The Chromosomal and Genomic Basis of Disease : Disorders of the Autosomes and Sex Chromosomes -- 7. Patterns of Single-Gene Inheritance -- 8. Principles of Clinical Epigenetics -- 9. Complex Inheritance of Common Multifactorial Disorders -- 10. Population Genetics for Genomic Medicine -- 11. Identifying the Genetic Basis for Human Disease -- 12. The Molecular Basis of Genetic Disease -- 13. The Molecular, Biochemical, and Cellular Basis of Genetic Disease -- 14. The Treatment of Genetic Disease -- 15. Developmental Genetics and Birth Defects -- 16. Cancer Genetics and Genomics -- 17. Genetic Counseling and Risk Assessment -- 18. Preconception and Prenatal Screening and Diagnosis -- 19. Application of Genomics to Medicine and Individualized Health Care -- 20. Ethical and Social Issues in Genetics and Genomics
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.
Génétique médicale / Génomique