000			03236nam a22003137a 4500
003			ZW-GwMSU
005			20201022154615.0
008			201022b ||||| |||| 00| 0 eng d
020			_a9780128125373
040			_arda _beng _cMSU _erda
050			_aRB155
245			_aEmery and Rimoin's principles and practice of medical genetics and genomics _bfoundations _cedited by Reed E. Pyeritz, Bruce R. Kork and Wayne W. Grody
250			_aSeventh Edition
260			_aOxford _bElsevier _c2019
300			_alxiii, 507 pages _bill. _c20 cm.
336			_2rdamedia _atxt
337			_2unmediated _ardamedia _bn
338			_2volume _ardacarrier _bnc
504			_aIncludes references and an index
505			_aVol. 1: Emery and Rimoin's principles and practice of medical genetics and genomics : fondations. -- 2019 Vol. 2: Emery and Rimoin's principles and practice of medical genetics and genomics : clinical principles and applications. -- 2019
520			_aWith nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.
650			_aMedical genetics
650			_aGenetics, Medical
650			_aGenetic diseases, inborn
700			_aPyeritz Reed E. _eeditor _ePerelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.
700			_aKorf, Bruce R. _eeditor _eUniversity of Alabama at Birmingham, Birmingham, AL, United States.
700			_aUCLA School of Medicine, Los Angeles, CA, United States.
942			_2lcc _cB
999			_c155583 _d155583