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Medical genetics in pediatric practice [E-Book]

By: Contributor(s): Publisher: [Elk Grove Village, IL] : American Academy of Pediatrics, [2013]Description: 1 online resource (xiii, 503 pages) : illustrationsContent type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9781581104974
  • 1581104979
  • 9781581109436
  • 1581109431
Subject(s): NLM classification:
  • WS 200
Online resources:
Contents:
Cover; Table of Contents; Introduction; Section 1: Overview of Genetics; Chapter 1 Fundamentals of Genetics and Genomics; Section 2: Implementing Geneticsin Pediatric Practice; Chapter 3 Integrating Genetics in Primary Care; Chapter 4 Genetics Services and Children With Special Health Care Needs; Chapter 5 Family History and Pedigree Construction; Chapter 6 Reasons to Consider a Genetics Evaluation; Chapter 7 Recognizing Inborn Errors of Metabolism; Chapter 8 Assessing Dysmorphology in Primary Care; Chapter 9 Specific Genetic Conditions; Section 3: Genetic Testing.
Chapter 10 Overview of Genetic TestingChapter 11 Genetic Testing in Children: The Need for Caution; Chapter 12 Population-Based Genetic Screening; Section 4: Counseling, Community, and Ethics; Chapter 13 Genetic Counseling Principles; Chapter 14 Genetics and the Community: A Commentary; Chapter 15 Genetics and Ethics in Pediatrics; Section 5: Trends in Genetics; Chapter 16 Treating Genetic Disorders; Chapter 17 Newborn Screening in the United States; Chapter 18 Preventable Disabilities: The Road Ahead; Chapter 19 Personalized Medicine; Chapter 20 Pharmacogenomics.
Chapter 21 Information Technology and Primary Care GeneticsGlossary; Appendix A Resources for the Pediatrician; Appendix B Newborn Screening ACT Sheets; Appendix C Initial Genetics Screening Evaluation; Index; Back Cover.
Summary: Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: Must-know basics on genetic processes, inheritance patterns, and genetic testing. Concise summaries of common genetic disorders. Recognition, evaluation, diagnosis, and treatment how-to's. Illuminating images of anomalies that may indicate genetic conditions. Case-based examples of ethical issues.
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Print version record.

Includes bibliographical references and index.

Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: Must-know basics on genetic processes, inheritance patterns, and genetic testing. Concise summaries of common genetic disorders. Recognition, evaluation, diagnosis, and treatment how-to's. Illuminating images of anomalies that may indicate genetic conditions. Case-based examples of ethical issues.

Cover; Table of Contents; Introduction; Section 1: Overview of Genetics; Chapter 1 Fundamentals of Genetics and Genomics; Section 2: Implementing Geneticsin Pediatric Practice; Chapter 3 Integrating Genetics in Primary Care; Chapter 4 Genetics Services and Children With Special Health Care Needs; Chapter 5 Family History and Pedigree Construction; Chapter 6 Reasons to Consider a Genetics Evaluation; Chapter 7 Recognizing Inborn Errors of Metabolism; Chapter 8 Assessing Dysmorphology in Primary Care; Chapter 9 Specific Genetic Conditions; Section 3: Genetic Testing.

Chapter 10 Overview of Genetic TestingChapter 11 Genetic Testing in Children: The Need for Caution; Chapter 12 Population-Based Genetic Screening; Section 4: Counseling, Community, and Ethics; Chapter 13 Genetic Counseling Principles; Chapter 14 Genetics and the Community: A Commentary; Chapter 15 Genetics and Ethics in Pediatrics; Section 5: Trends in Genetics; Chapter 16 Treating Genetic Disorders; Chapter 17 Newborn Screening in the United States; Chapter 18 Preventable Disabilities: The Road Ahead; Chapter 19 Personalized Medicine; Chapter 20 Pharmacogenomics.

Chapter 21 Information Technology and Primary Care GeneticsGlossary; Appendix A Resources for the Pediatrician; Appendix B Newborn Screening ACT Sheets; Appendix C Initial Genetics Screening Evaluation; Index; Back Cover.

Master record variable field(s) change: 072

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