Emery and Rimoin's principles and practice of medical genetics and genomics foundations edited by Reed E. Pyeritz, Bruce R. Kork and Wayne W. Grody

Contributor(s):

Pyeritz Reed E [editor, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.]
Korf, Bruce R [editor, University of Alabama at Birmingham, Birmingham, AL, United States.]
UCLA School of Medicine, Los Angeles, CA, United States

Material type: Text

TextPublication details: Oxford Elsevier 2019Edition: Seventh EditionDescription: lxiii, 507 pages ill. 20 cmContent type:

Media type:

rdamedia

Carrier type:

rdacarrier

ISBN:

9780128125373

Subject(s):

LOC classification:

RB155

Contents:

Vol. 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

Summary: With 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.

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Holdings
Item type	Current library	Call number	Copy number	Status	Date due	Barcode
Book	Medical School Open Shelf	RB155 EME (Browse shelf(Opens below))	151162	Available		BK137893

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Includes references and an index

Vol. 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

With 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.

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