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082 0 4 _a616.042
_bT956e 2017
100 1 _9288954
_aTurnpenny, Peter D,
_eautor
245 1 0 _aEmery´s elements of medical genetics /
_cPeter D. Turnpenny, BSc, MB, ChB, FRCP, FRCPCH, FRCPath, FHEA, Consultant Clinical Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Honorary Clinical Professor, University of Exeter Medical School, Sian Ellard, BSc, PhD, FRCPath, Consultant Clinical Molecular Geneticist, Royal Devon and Exeter NHS Foundation Trust, and Professor of Molecular Genetics and Genomic Medicine, University of Exeter Medical School.
246 2 _aElements of medical genetics
250 _aEdition 15.
264 3 1 _a[Philadelphia, PA] :
_bElsevier,
_c2017.
300 _ax, 400 páginas :
_bilustraciones ;
_c28 cm.
336 _atexto
_btxt
_2rdacontent
337 _ano mediado
_bn
_2rdamedia
338 _avolumen
_bnc
_2rdacarrier
504 _aIncluye referencias biblliográficas e índice
505 0 _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 3 _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.´ --Reverso de cubierta
650 1 4 _9104316
_aEnfermedades genéticas.
650 1 4 _94818
_aGenética médica.
700 1 _9139164
_aEllard, Sian.,
_eautor.
775 0 0 _aPAR
_wUDM01000144925
_nOtra edición disponible 15a edición
_nOtra edición disponible 14a edición
_nEmery´s elements of medical genetics /
942 _2ddc
_cGEN
991 _aCC
_bGonzález Habib, Roberto
_cPR17
_dSEP
992 _aHCGO1010 Bioquímica
997 _aHAVILA
_b40
_c20171006
_lUDM01
_h1553
998 _aHAVILA
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_c20171006
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999 _c141678
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900 _aPSI
900 _aCC
900 _aEME
900 _aCB
900 _aNUT