000 02153cam a22003011a 4500
999 _c46183
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003 DR-UNIBE
005 20240207153316.0
008 200702b2017 xxu||||| |||| 00| 0 eng d
020 _a9780702066856
035 _a(OCoLC)974793804
040 _aCNMON
_bfre
_cCNMON
_dOCLCO
_dOCLCF
_dOCLCA
_dDRUNI
041 _aeng
049 _aReserva
082 0 4 _a616.042 T956e 2017
100 1 _aTurnpenny, Peter D.,
_eauthor.
_936247
245 1 0 _aEmery's elements of medical genetics /
_cPeter D. Turnpenny, Sian Ellard
250 _aDecimoquinta edición
260 _aNew York :
_bElsevier,
_c2017
300 _ax, 400 páginas :
_bilustraciones en color, gráficos ;
_c22 x 28 cm
500 _aEste libro también está disponible en formato electrónico para acceso en línea: https://elsevierelibrary.co.uk/product/emerys-elements-medical-genetics85248
504 _aIncluye bibliografía e índice
505 _a1. The history and impact of genetics in medicine THE SCIENTIFIC BASIS OF HUMAN GENETICS 2. The cellular and molecular basis of inheritance 3. Chromosomes and cell division 4. Finding the cause of monogenic disorders by identifying disease genes 5. Laboratory techniques for diagnosis of monogenic disorders 6. Patterns of inheritance 7. Population and mathematical genetics 8. Risk calculation 9. Developmental genetics GENETICS IN MEDICINE AND GENOMIC MEDICINE 10. Common disease, polygenic and multifactorial genetics 11. Screening for genetic disease 12. Hemoglobin and the hemoglobinopathies 13. Inmunogenetics 14. The genetics of cancer... and cancer genetics 15. Pharmacogenetics, personalized medicine and the treatment of genetic disease CLINICAL GENETICS, COUNSELING, AND ETHICS 16. Congenital abnormalities, dysmorphic syndromes, and learning disability 17. Chromosome disorders 18. Inborn errors of metabolism 19. Mainstream monogenic disorders 20. Prenatal testing and reproductive genetics 21. Genetic counseling 22. Ethical and legal issues in medical genetics
650 0 4 _aGenética médica
_92669
650 0 4 _aEnfermedades genéticas
_92670
700 1 _aEllard, Sian.
_92671
942 _2ddc
_cBK-RES