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Medizinische Genetik in der pädiatrischen Praxis Buch/Träne im Buch geht bis Seite 9

Jen and Josh
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Artikelzustand
Akzeptabel: Buch mit deutlichen Gebrauchsspuren. Der Einband kann einige Beschädigungen aufweisen, ...
Subject Area
Pediatrics
Subject
Fasting
ISBN
9781581104967

Über dieses Produkt

Product Identifiers

Publisher
American Academy of Pediatrics
ISBN-10
1581104960
ISBN-13
9781581104967
eBay Product ID (ePID)
159975534

Product Key Features

Number of Pages
504 Pages
Publication Name
Medical Genetics in Pediatric Practice
Language
English
Subject
Pediatrics, Clinical Medicine, Genetics, Diagnosis
Publication Year
2013
Type
Textbook
Subject Area
Medical
Author
Robert A. Saul
Format
Trade Paperback

Dimensions

Item Height
0.8 in
Item Weight
29.7 Oz
Item Length
9 in
Item Width
6 in

Additional Product Features

Intended Audience
Scholarly & Professional
LCCN
2010-907077
Reviews
94 - 4 Star Doody's Review! Derived from the American Academy of Pediatrics Policy Guidelines, this is a detailed compilation of current genetic information with magnificent illustrations designed to be used as a consultative source for pediatricians. Dr. Saul and the unique group of contributors suggest guidelines that can be used by pediatricians to apply current genetic knowledge in their practices. This is a much-needed service and a highly difficult task. The authors have opted for an all-inclusive approach which places the book at risk of not being as practical for general pediatricians as it could be. On the other hand, it is a wonderfully written medical genetics book that reviews basic concepts and promotes the involvement of general pediatricians in the treatment and recognition of genetic disorders. The American Academy of Pediatrics endorses this publication as a resource that should be available to general pediatricians to help them incorporate medical genetics into their practice. The target audience is clearly pediatricians in general. However, the detailed information the book includes may also be helpful to medical genetics residents and pediatric residents early in their education. Dr. Saul is a well-known medical geneticist who has recruited a high quality team of contributors to the book, all recognized as experts in the field. The book moves from basic science to clinical genetics, covering basic concepts of human genetics in the early chapters, clinical genetics in the midsection, and concluding with genetic counseling and additional resources. Of particular interest is the dysmorphology section, which is beautifully illustrated with wonderful clinical photographs. Although there are not clearly innovative features, the glossary is extensive and very useful, as are the unique appendixes such as the initial genetics screening evaluation. This is a wonderful, well-planned book.  This is an invaluable tool, and it should be on the must-have list for all those interested in current information on human and medical genetics., 94 - 4 Star Doody's Review! Derived from the American Academy of Pediatrics Policy Guidelines, this is a detailed compilation of current genetic information with magnificent illustrations designed to be used as a consultative source for pediatricians. Dr. Saul and the unique group of contributors suggest guidelines that can be used by pediatricians to apply current genetic knowledge in their practices. This is a much-needed service and a highly difficult task. The authors have opted for an all-inclusive approach which places the book at risk of not being as practical for general pediatricians as it could be. On the other hand, it is a wonderfully written medical genetics book that reviews basic concepts and promotes the involvement of general pediatricians in the treatment and recognition of genetic disorders. The American Academy of Pediatrics endorses this publication as a resource that should be available to general pediatricians to help them incorporate medical genetics into their practice. The target audience is clearly pediatricians in general. However, the detailed information the book includes may also be helpful to medical genetics residents and pediatric residents early in their education. Dr. Saul is a well-known medical geneticist who has recruited a high quality team of contributors to the book, all recognized as experts in the field. The book moves from basic science to clinical genetics, covering basic concepts of human genetics in the early chapters, clinical genetics in the midsection, and concluding with genetic counseling and additional resources. Of particular interest is the dysmorphology section, which is beautifully illustrated with wonderful clinical photographs. Although there are not clearly innovative features, the glossary is extensive and very useful, as are the unique appendixes such as the initial genetics screening evaluation. This is a wonderful, well-planned book. This is an invaluable tool, and it should be on the must-have list for all those interested in current information on human and medical genetics.
Illustrated
Yes
Table Of Content
Overview of Genetics Fundamentals of Genetics and Genomics Genetics Over the Life Cycle Implementing Genetics in Pediatric Practice Integrating Genetics in Primary Care Genetics Services and Children with Special Health Care Needs Family History and Pedigree Construction Reasons to Consider a Genetic Evaluation Recognizing Inborn Errors of Metabolism Assessing Dysmorphology in Primary Care Specific Genetic Conditions Genetic Testing Overview of Genetic Testing Genetic Testing in Children: The Need for Caution Population-based Genetic Screening Counseling, Community, and Ethics Genetic Counseling Principles Genetics in the Community: A Commentary Genetics and Ethics in Pediatrics Trends in Genetics Treating Genetic Disorders Newborn Screening in the United States Preventable Disabilities: The Road Ahead Personalized Medicine Pharmacogenomics Information Technology and Primary Care Genetics Glossary Appendix A Resources for the Pediatrician Appendix B Newborn Screening ACT Sheets Appendix C Initial Genetic Screening Evaluation
Synopsis
Medical Genetics in Pediatric Practice is the pediatrician's primer for molecular biology, genetic testing, and the approach to a child with a suspected genetic disorder. This concise book guides the primary care physician through recognising genetic disorders, taking a complete genetic history, constructing a pedigree, and when to refer. A glossary of genetic terms and a list of critical resources make this book a must have for all primary care physicians. The book includes images of common minor anomalies that should alert the physician to a possible genetic condition., 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 Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more, This is a paediatrician's primer for molecular biology, genetic testing, and the approach to a child with a suspected genetic disorder. This concise book guides the primary care physician through recognising genetic disorders, taking a complete genetic history, constructing a pedigree, and when to refer.

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Jen and Josh

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