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
