Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications /

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Bibliographic Details
Edition:Seventh edition.
Imprint:London, U.K. : Academic Press is an imprint of Elsevier, [2019]
©2019
Description:1 online resource (xiii, 397 pages) : illustrations (some color)
Language:English
Subject:
Format: E-Resource Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/11761091
Hidden Bibliographic Details
Varying Form of Title:Principles and practice of medical genetics and genomics
Clinical principles and applications
Other uniform titles:Companion to: Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations. Seventh edition. [2019]
Companion to: Emery and Rimoin's principles and practice of medical genetics and genomics. Foundations. Seventh edition.
Other authors / contributors:Pyeritz, Reed E., editor.
Korf, Bruce R., editor.
Grody, Wayne W., editor.
ISBN:9780128126844
0128126841
9780128125366
0128125365
Language / Script:Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.
Notes:Companion 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].
Includes bibliographical references and index.
Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
Online resource; title from electronic title page (ClinicalKey, viewed January 2, 2019).
Summary:"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
Other form:Print version: Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications. London : Academic Press is an imprint of Elsevier, [2019] 9780128125366

MARC

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246 3 |a Principles and practice of medical genetics and genomics 
246 3 |a Clinical principles and applications 
250 |a Seventh edition. 
264 1 |a London, U.K. :  |b Academic Press is an imprint of Elsevier,  |c [2019] 
264 4 |c ©2019 
300 |a 1 online resource (xiii, 397 pages) :  |b illustrations (some color) 
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500 |a Companion 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]. 
504 |a Includes bibliographical references and index. 
505 0 |a A 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 
588 0 |a Online resource; title from electronic title page (ClinicalKey, viewed January 2, 2019). 
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700 1 |a Pyeritz, Reed E.,  |e editor. 
700 1 |a Korf, Bruce R.,  |e editor. 
700 1 |a Grody, Wayne W.,  |e editor. 
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