LEADER 04192oam 22005653 450 001 9910583376903321 005 20250416110914.0 010 $a0-12-812684-1 035 $a(CKB)4100000007163869 035 $a(FR-PaCSA)88964983 035 $a(FRCYB88964983)88964983 035 $a(MiAaPQ)EBC5602407 035 $a(EXLCZ)994100000007163869 100 $a20231211d2018 uy 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 181 $csti$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aEmery and Rimoin's Principles and Practice of Medical Genetics and Genomics $eClinical Principles and Applications 205 $a7th ed. 210 1$aSan Diego :$cElsevier Science & Technology,$d2018. 210 4$dİ2019. 215 $a1 online resource $cillustrations (some color) 300 $aCompanion volume to Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Foundations / Edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody. Seventh edition. [2019]. 311 08$a0-12-812536-5 320 $aIncludes bibliographical references. 327 $aA Clinical approach to the dysmorphic child -- Clinical teratology -- Neurodevelopmental disabilities: global developmental delay, intellectual disability, and autism -- Abnormal body size and proportion -- Cytogenetic analysis -- Diagnostic molecular genetics -- Therapies for lysosomal storage diseases -- Transplantation genetics -- Genetic evaluation for common, chronic disorders of adulthood 265 -- Carrier screening and heterozygote testing -- Circadian rhythms and disease -- The Genomic health record: current status and vision for the future -- Ethical and social issues in clinical genetics -- Genetics and genomics in public health -- Implementation of genomic medicine: an international perspective. 330 $aThe Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine. Includes color images supporting identification, concept illustration, and method processing. Features contributions by leading international researchers and practitioners of medical genetics. -- Publisher 606 $aMedical genetics 606 $aGenomics 606 $aGenetics, Medical 606 $aGenetic Diseases, Inborn 615 0$aMedical genetics. 615 0$aGenomics. 615 12$aGenetics, Medical. 615 22$aGenetic Diseases, Inborn. 676 $a616.042 676 $a616.042 700 $aPyeritz$b Reed E$01737063 701 $aKorf$b Bruce R$0747985 701 $aGrody$b Wayne W$01737064 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910583376903321 996 $aEmery and Rimoin's Principles and Practice of Medical Genetics and Genomics$94157998 997 $aUNINA LEADER 01503nam 2200469zu 450 001 9911004774603321 005 20210807002022.0 010 $a1-62198-699-3 035 $a(CKB)2670000000406671 035 $a(SSID)ssj0001002729 035 $a(PQKBManifestationID)12461040 035 $a(PQKBTitleCode)TC0001002729 035 $a(PQKBWorkID)11015419 035 $a(PQKB)11195941 035 $a(EXLCZ)992670000000406671 100 $a20160829d2007 uy 101 0 $aeng 181 $ctxt 182 $cc 183 $acr 200 10$aHazardous materials air monitoring and detection devices 210 31$a[Place of publication not identified]$cThomson/Delmar Learning$d2007 300 $aBibliographic Level Mode of Issuance: Monograph 311 $a1-4180-3831-8 517 $aHazardous Materials Air Monitoring and Detection Devices 606 $aHazardous substances$xMeasurement$xPollution 606 $aAir 606 $aAir sampling apparatus 606 $aEngineering & Applied Sciences$2HILCC 606 $aTechnology - General$2HILCC 615 0$aHazardous substances$xMeasurement$xPollution. 615 0$aAir. 615 0$aAir sampling apparatus. 615 7$aEngineering & Applied Sciences 615 7$aTechnology - General 676 $a628.5/30287 700 $aHawley$b Chris$01824037 801 0$bPQKB 906 $aBOOK 912 $a9911004774603321 996 $aHazardous materials air monitoring and detection devices$94391066 997 $aUNINA