Emery´s elements of medical genetics / Peter D. Turnpenny, BSc, MB, ChB, FRCP, FRCPCH, FRCPath, FHEA, Consultant Clinical Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Honorary Clinical Professor, University of Exeter Medical School, Sian Ellard, BSc, PhD, FRCPath, Consultant Clinical Molecular Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Professor of Molecular Genetics and Genomic Medicine, University of Exeter Medical School.

Incluye referencias biblliográficas e índice

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.

´Everything a student needs to know about medical genetics is here in the 15th ediction of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery´s enviable reputation for successfully balancing up-to-dateness in a rapidly developing field witha strong basis in practical clinical genetics for medical students.´ --Reverso de cubierta