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008 190510b ||||| |||| 00| 0 eng d
020 _a9780702066856
082 _aQZ50
_bEME
100 _aTurnpenny, Peter D.
_9266
245 _aEmery's elements of medical genetics
250 _a15th ed.
260 _aPhiladelphia:
_bElsevier,
_c2017
300 _ax, 400 p.:
_c26 cm.
500 _aContents: The 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.
650 _aMedical Genetics
_9267
650 _aGenetics, Medical
_9268
700 _aEllard, Sian
_9269
942 _cBK