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020 _a9780702066856
040 _cNULRC
050 _aRB 155 .T87 2017
100 _aTurnpenny, Peter D.
_eauthor
245 0 _aEmery's elements of medical genetics /
_cPeter D. Turnpenny and Sian Ellard.
260 _a[Philadelphia] :
_bElsevier Science,
_cc2017
300 _ax, 400 pages :
_billustrations ;
_c28 cm.
365 _bPHP5950
504 _aIncludes bibliographical references and index.
505 _aThe 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.
520 _a"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.
650 _aMEDICAL GENETICS
700 _aEllard, Sian
_eco-author
942 _2lcc
_cBK
999 _c16179
_d16179