LEADER 00000cam a2200313 4500 001 u45070 003 SIRSI 008 180311s2016 xxua b 001 0 eng u 020 9781437706963 (alk. paper) 049 JURF 050 00 RB155|b.T52 2016 100 1 Nussbaum, Robert L., 1950- 245 10 Thompson & Thompson genetics in medicine /|cRobert 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 Ressearch 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 cases 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. 246 30 Genetics in medicine 246 30 Thompson and Thompson genetics in medicine 250 Eighth edition 260 Philadelphia :|bElsevier,|c[2016] 300 xi, 546 pages :|billustrations ;|c28 cm. 500 Originally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson. 504 Includes bibliographical references and index. 505 Introduction to the human genome -- The human genome: gene structure and function -- 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 -- The molecular basis of genetic disease : general principles and lessons from the hemoglobinopathies -- The molecular, biochemical, and cellular basis of genetic disease -- The treatment of genetic disease -- Developmental genetics and birth defects -- Cancer genetics and genomics -- Risk assessment and genetic counseling -- Prenatal diagnosis and screening -- Application of genomics to medicine and personalized health care -- Ethical and social issues in genetics and genomics. 520 Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders 650 0 Medical genetics 700 1 McInnes, Roderick R 700 1 Willard, Huntington F
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