Emery's elements of medical genetics
- 15th ed.
- Philadelphia: Elsevier, 2017
- x, 400 p.: 26 cm.
Contents:
The history and impact of genetics in medicine
Section A: The scientific basis of human genetics 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
Section B: Genetics in medicine and genomic medicine Common disease, polygenic and multifactorial genetics Screening for genetic disease Hemoglobin and the hemoglobinopathies Immunogenetics The genetics of cancer and cancer genetics
Pharmacogenetics, personalized medicine and the treatment of genetic disease
Section C: Clinical genetics, counseling, and ethics Congenital, abnormalities, dysmorphic syndromes, and learning disability Chromosome disorders Inborn errors of metabolism Mainstream monogenetic disorders Prenatal testing and reproductive genetics Genetic counseling Ethical and legal issues in medical genetics.