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003			ZW-GwMSU
005			20241206065517.0
008			241205b |||||||| |||| 00| 0 eng d
020			_a9780128125366
040			_arda _bEnglish _erda _cMSULIB
050	0	0	_aRB155 EME
100	1		_aPyeritz Reed E. _eeditor
245	0	0	_aEmery and Rimoin's principles and practice of medical genetics and genomics. _pClinical principles and applications / _cedited by Reed E. Pyeritz, Perelman School of Medicine at the University of Pennsylvania, Bruce R. Korf, University of Alabama at Birmingham, Birmingham, AL, Wayne W. Grody, UCLA School of Medicine, Los Angeles, CA.
246	3	0	_aClinical principles and applications
246	3	0	_aPrinciples and practice of medical genetics and genomics
250			_aSeventh edition.
264		1	_bElsevier/Academic Press, _c2019.
300			_axiii, 397 pages : _billustrations (chiefly color) ; _c25 cm
336			_atext _2rdacontent
337			_aunmediated _bn _2rdamedia
338			_avolume _bnc _2rdacarrier
504			_aIncludes bibliography and index
505			_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
520			_a"The 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. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application"--Publisher's description
650		0	_aMedical genetics.
700	1		_aKorf, Bruce R., _eeditor.
700	1		_aGrody, Wayne W., _eeditor.
775	0	8	_iReplacement in part of (work): _aEmery and Rimoin's principles and practice of medical genetics. _b6th ed. _dAmsterdam : Academic Press, 2013. _z9780123838346.
942			_2lcc _cB
999			_c168581 _d168581