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Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material.

  • Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis.
  • Offers a completely updated discussion of genetic testing modalities and applications.
  • Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment.
  • Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses.
  • Illustrates key concepts with disease examples to demonstrate relevance to medicine.
  • Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online.
  • Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

1. Cover image - p. Cover 2. Title page - p. ii 3. Table of Contents - p. iii 4. Copyright - p. iii 5. Dedication - p. iii 6. Foreword - p. iii 7. Preface - p. iii 8. Acknowledgments - p. iii 9. List of Illustrations - p. iii 10. List of Tables - p. iii 11. Chapter 1: Background and History - p. iii 12. Chapter 2: Basic Cell Biology: Structure and Function of Genes and Chromosomes - p. g4 13. Chapter 3: Genetic Variation: Its Origin and Detection - p. g24 14. Chapter 4: Autosomal Dominant and Recessive Inheritance - p. g54 15. Chapter 5: Sex-Linked and Nontraditional Modes of Inheritance - p. g72 16. Chapter 6: Clinical Cytogenetics: The Chromosomal Basis of Human Disease - p. g94 17. Chapter 7: Biochemical Genetics: Disorders of Metabolism - p. g124 18. Chapter 8: Disease-Gene Identification - p. g144 19. Chapter 9: Immunogenetics - p. g167 20. Chapter 10: Genetic Basis of Development - p. g184 21. Chapter 11: Cancer Genetics - p. g204 22. Chapter 12: Multifactorial Inheritance and Common Diseases - p. g224 23. Chapter 13: Genetic Testing and Gene Therapy - p. g248 24. Chapter 14: Genetics and Precision Medicine - p. g273 25. Chapter 15: Clinical Genetics and Genetic Counseling - p. g282 26. Glossary - p. g302 27. Answers to Study Questions - p. g314 28. Index - p. g328

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Descripcion
Descripción

Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material.

  • Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis.
  • Offers a completely updated discussion of genetic testing modalities and applications.
  • Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment.
  • Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses.
  • Illustrates key concepts with disease examples to demonstrate relevance to medicine.
  • Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online.
  • Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

1. Cover image - p. Cover 2. Title page - p. ii 3. Table of Contents - p. iii 4. Copyright - p. iii 5. Dedication - p. iii 6. Foreword - p. iii 7. Preface - p. iii 8. Acknowledgments - p. iii 9. List of Illustrations - p. iii 10. List of Tables - p. iii 11. Chapter 1: Background and History - p. iii 12. Chapter 2: Basic Cell Biology: Structure and Function of Genes and Chromosomes - p. g4 13. Chapter 3: Genetic Variation: Its Origin and Detection - p. g24 14. Chapter 4: Autosomal Dominant and Recessive Inheritance - p. g54 15. Chapter 5: Sex-Linked and Nontraditional Modes of Inheritance - p. g72 16. Chapter 6: Clinical Cytogenetics: The Chromosomal Basis of Human Disease - p. g94 17. Chapter 7: Biochemical Genetics: Disorders of Metabolism - p. g124 18. Chapter 8: Disease-Gene Identification - p. g144 19. Chapter 9: Immunogenetics - p. g167 20. Chapter 10: Genetic Basis of Development - p. g184 21. Chapter 11: Cancer Genetics - p. g204 22. Chapter 12: Multifactorial Inheritance and Common Diseases - p. g224 23. Chapter 13: Genetic Testing and Gene Therapy - p. g248 24. Chapter 14: Genetics and Precision Medicine - p. g273 25. Chapter 15: Clinical Genetics and Genetic Counseling - p. g282 26. Glossary - p. g302 27. Answers to Study Questions - p. g314 28. Index - p. g328

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