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Author Turnpenny, Peter D.
Title Emery's elements of medical genetics [electronic resource] / Peter D. Turnpenny, Sian Ellard.
Imprint [Philadelphia, PA] : Elsevier, [2017]
Edition 15th edition.
Book Cover
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Details

Phys. Description 1 online resource : illustrations, portraits (some color).
Bibliog. Includes bibliographical references and index.
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.
Summary "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." --Back Cover.
Subject Genetics, Medical
Genetic Diseases, Inborn
Genre Electronic books. lcgft
Alt Author Ellard, Sian.
Emery, Alan E. H.
Alt Title Elements of medical genetics
ISBN 9780702066856
0702066850