Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.

Format:

Book

Contributor:

Pyeritz, Reed E., editor.

Korf, Bruce R., editor.

Grody, Wayne W., editor.

Language:

English

Subjects (All):

Medical genetics.

Genomics.

Genre:

Electronic books.

Physical Description:

1 online resource (xiii, 397 pages) : illustrations (some color)

Edition:

Seventh edition.

Other Title:

Principles and practice of medical genetics and genomics

Clinical principles and applications

Place of Publication:

London, U.K. : Academic Press is an imprint of Elsevier, [2019]

System Details:

data file

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.

Contents:

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.

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.

Description based on online resource; title from electronic title page (ClinicalKey, viewed January 2, 2019).

Other Format:

Print version: Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications

ISBN:

9780128126844

0128126841

OCLC:

1076269080

Access Restriction:

Restricted for use by site license.