000 03361cam a2200433 i 4500
001 18525263
003 OSt
005 20241106080513.0
008 150311t20162016paua b 001 0 eng
010 _a 2015009828
020 _a9781437706963 (alk. paper)
020 _a1437706967 (alk. paper)
035 _a(DNLM)101653590
040 _aDNLM/DLC
_cAmiu
_erda
_dDLC
042 _apcc
050 0 0 _aRB155
_b.T52 2024
100 1 _aNussbaum, Robert L.,
_d1950- ,
_eauthor.
245 1 0 _aThompson & 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 1 _aGenetics in medicine
246 1 _aThompson and Thompson genetics in medicine
250 _a9th ed.
264 1 _aPhiladelphia :
_bElsevier,
_c2024
264 4 _c©2024
300 _axi, 546 pages :
_billustrations ;
_c28 cm
336 _atext
_2rdacontent
337 _aunmediated
_2rdamedia
338 _avolume
_2rdacarrier
500 _aOriginally published under the title: Genetics in medicine / James S. Thompson and Margaret W. Thompson.
504 _aIncludes bibliographical references and index.
505 0 _aIntroduction 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.
583 _aCataloging Notes:
_c20240822
_kSTAMIU-0199STAMIU-0199
650 0 _aMedical genetics.
650 1 2 _aGenetics, Medical.
700 1 _aMcInnes, Roderick R.,
_eauthor.
700 1 _aWillard, Huntington F.,
_eauthor.
906 _a7
_bcbc
_corignew
_d1
_eecip
_f20
_gy-gencatlg
942 _2lcc
_cBK
_n0
999 _c20752
_d20752