LEADER 02965nam 2200505 450 001 9910154626103321 005 20230120003546.0 010 $a0-7020-6689-3 035 $a(CKB)4340000000019033 035 $a(MiAaPQ)EBC4753367 035 $a(EXLCZ)994340000000019033 100 $a20161214h20172017 uy 0 101 0 $aeng 135 $aurcnu|||||||| 181 $2rdacontent 181 $csti$2rdacontent 182 $2rdamedia 183 $2rdacarrier 200 10$aEmery's elements of medical genetics /$fPeter D. Turnpenny, Sian Ellard 205 $aFifteenth Edition 210 1$a[Saint Louis, Missouri] :$cElsevier,$d2017. 210 4$dİ2017 215 $a1 online resource (1,017 pages) $cillustrations (some color), photographs, tables 300 $aIncludes index. 311 $a0-7020-6686-9 311 $a0-7020-6685-0 320 $aIncludes bibliographical references and index. 327 $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. 330 $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. 606 $aGenetics, Medical 606 $aGenetic Diseases, Inborn 606 $aMedical genetics 615 12$aGenetics, Medical. 615 22$aGenetic Diseases, Inborn. 615 0$aMedical genetics. 676 $a616.042 700 $aTurnpenny$b Peter D.$0848850 702 $aEllard$b Sian 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910154626103321 996 $aEmery's elements of medical genetics$91895828 997 $aUNINA