TY - BOOK AU - Turnpenny, Peter D. AU - Ellard, Sian TI - Emery's elements of medical genetics SN - 9780702066856 U1 - QZ50 PY - 2017/// CY - Philadelphia PB - Elsevier KW - Medical Genetics KW - Genetics, Medical N1 - 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 ER -