Emery's elements of medical genetics and genomics /
Peter Turnpenny, Sian Ellard, Ruth Cleaver.
- Decimosexta edición
- 448 páginas : ilustraciones; 30 cm
The History and Impact of Genetics in Medicine - The Cellular and Molecular Basis of Inheritance - Chromosomes and Cell Division - Finding the Cause of Monogenic Disorders by Identifying Disease Genes - Laboratory Techniques for Diagnosis of Monogenic Disorders - Patterns of Inheritance - Population and Mathematical Genetics - Risk Calculation - Developmental Genetics - Common Disease, Polygenic, and Multifactorial Genetics - Screening for Genetic Disease - Hemoglobin and the Hemoglobinopathies - Immunogenetics - The Genetics of Cancer…and Cancer Genetics - Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease - Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability - Chromosome Disorders - Inborn Errors of Metabolism - Mainstream Monogenic Disorders - Prenatal Testing and Reproductive Genetics - Genetic Counseling - Ethical and Legal Issues in Medical Genetics.