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Author Turnpenny, Peter D., author Consultant Clinical Geneticist, Royal Devon and Exeter Hospital<br>Senior Clinical Lecturer, Peninsula Medical School, Exeter, UK

Title Emery's Elements of Medical Genetics / Peter D Turnpenny, Sian Ellard.

Published Elsevier, 2017.


Location Call No. Status
Edition 15th.
Physical description 1 online resource (486 pages)
Series Online access with purchase: Elsevier Clinical Key.
Elsevier ClinicalKey Australia
Bibliography 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.
Other author Ellard, Sian, author.
Elsevier issuing body.
Subject Medical genetics.
ISBN 9780702066894 (electronic bk.)
0702066893 (electronic bk.)