tailieunhanh - Ebook Genetics in medicine (8/E): Part 1

Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease. | THOMPSON amp THOMPSON GENETICS IN MEDICINE THOMPSON amp THOMPSON GENETICS EIGHTH EDITION IN MEDICINE Robert L. Nussbaum MD FACP FACMG Holly Smith Chair of Medicine and Science Professor of Medicine Neurology Pediatrics and Pathology Department of Medicine and Institute for Human Genetics University of California San Francisco San Francisco California Roderick R. McInnes CM MD PhD FRS C FCAHS FCCMG Alva Chair in Human Genetics Canada Research Chair in Neurogenetics Professor of Human Genetics and Biochemistry Director Lady Davis Institute Jewish General Hospital McGill University Montreal Quebec Canada Huntington F. Willard PhD President and Director The Marine Biological Laboratory Woods Hole Massachusetts and Professor of Human Genetics University of Chicago Chicago Illinois With Clinical Case Studies updated by Ada Hamosh MD MPH Professor of Pediatrics McKusick-Nathans Institute of Genetic Medicine Scientific Director OMIM Johns Hopkins University School of Medicine Baltimore Maryland 1600 John F. Kennedy Blvd. Ste 1800 Philadelphia PA 19103-2899 THOMPSON amp THOMPSON GENETICS IN MEDICINE ISBN 978-1-4377-0696-3 EIGHTH EDITION Copyright 2016 by Elsevier Inc. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means electronic or mechanical including photocopying recording or any information storage and retrieval system without permission in writing from the publisher. Details on how to seek permission further information about the Publisher s permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency can be found at our website permissions. This book and the individual contributions contained in it are protected under copyright by the Publisher other than as may be noted herein . Notices Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding changes in