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Emery's elements of medical genetics /

by Turnpenny, Peter D.,
Additional authors: Ellard, Sian, -- author. Edition statement:Edition 15. Published by : Elsevier, ([Philadelphia, PA] :) Physical details: x, 400 pages : illustrations. ISBN: 9780702066856. Subject(s): Medical genetics. Year: 2017
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Item type Location Call number Status Notes Date due
Ebook Ebook
Turkeyen Campus
RB155 E5 2017 (Browse shelf) Available soft copy available at TCL

Includes bibliographical references and index.

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.

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