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Medical Genetics
Medical Genetics

Medical Genetics, 1st Edition

ISBN10: 0071819282 | ISBN13: 9780071819282
By G. Bradley Schaefer and James Thompson
© 2014

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* The estimated amount of time this product will be on the market is based on a number of factors, including faculty input to instructional design and the prior revision cycle and updates to academic research-which typically results in a revision cycle ranging from every two to four years for this product. Pricing subject to change at any time.

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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine

Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as:

  • The structure and function of genes
  • Cytogenetics
  • Mendelian inheritance
  • Mutations
  • Genetic testing and screening
  • Genetic therapies
  • Disorders of organelles
  • Key genetic diseases, disorders, and syndromes

Each chapter of Medical Genetics is logically organized into three sections:

  1. Background and Systems – Includes the basic genetic principles needed to understand the medical application
  2. Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE
  3. Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care

Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Table of Contents

Acknowledgements

Dedication

Preface

Chapter 1 Genetics: Unity and Diversity

Chapter 2 Information Flow and Levels of Regulation

Chapter 3 The Organization of Development

Chapter 4 Structure and function of genes

Chapter 5 Cytogenetics

Chapter 6 Mendelian Inheritance

Chapter 7 Mutations

Chapter 8 Metabolism

Chapter 9 Family History / Pedigree Analysis

Chapter 10 Gene Environment Interactions

Chapter 11 Genetic Testing and Screening

Chapter 12 Atypical Modes of Inheritance

Chapter 13 Disorders of Organelles

Chapter 14 From Genomics to Proteomics to Metabolomics

Chapter 15 Genetic Therapeutics

Chapter 16 Population Genetics

Chapter 17 Tying it together

Bibliography

Glossary

Index

Resources

Answers to USMLE-style questions

About the Author

G. Bradley Schaefer

James Thompson

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