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Author Turnpenny, Peter D.
Title Emery's elements of medical genetics and genomics [electronic resource] / Peter D. Turnpenny, Sian Ellard, Ruth Cleaver.
Imprint [Philadelphia, PA] : Elsevier, [2022]
Edition Sixteenth 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.
Subject Genetics, Medical
Genetic Diseases, Inborn
Genre Electronic books. lcgft
Alt Author Ellard, Sian.
Emery, Alan E. H.
Cleaver, Ruth.
Alt Title Elements of medical genetics
ISBN 9780702079665
0702079669
9780702079672