
Emery's Elements of Medical Genetics
by Peter D. Turnpenny, Sian Ellard
15th Edition
Publisher: Elsevier
Book Details
| Print ISBN | 9780702066856 |
| eText ISBN | 9780702066900 |
| Publisher | Elsevier |
| Publishing Year | 2017 |
| Edition | 15th Edition |
| Language | English |
| Pages | 416 |
Emery's Elements of Medical Genetics, 15th Edition, serves as an introductory textbook covering the fundamentals of medical and human genetics. The volume is designed for medical undergraduates as well as postgraduates seeking to strengthen their knowledge of inherited conditions and clinical applications.
The text addresses the biological foundations of human inheritance, the integration of genetics and genomics in medicine, and the clinical management of genetic conditions. It examines how inherited factors influence health while exploring the ethical, social, and counseling considerations that guide patient care.
To support study and review, concise Elements summary boxes appear at the end of each chapter to present fundamental concepts at a glance.
Table of Contents
Chapter 1: The history and impact of genetics in medicine
Chapter A: The Scientific Basis of Human Genetics
Chapter 2: The cellular and molecular basis of inheritance
Chapter 3: Chromosomes and cell division
Chapter 4: Finding the cause of monogenic disorders by identifying disease genes
Chapter 5: Laboratory techniques for diagnosis of monogenic disorders
Chapter 6: Patterns of inheritance
Chapter 7: Population and mathematical genetics
Chapter 8: Risk calculation
Chapter 9: Developmental genetics
Chapter B: Genetics in Medicine and Genomic Medicine
Chapter 10: Common disease, polygenic and multifactorial genetics
Chapter 11: Screening for genetic disease
Chapter 12: Hemoglobin and hemoglobinopathies
Chapter 13: Immunogenetics
Chapter 14: The genetics of cancer … and cancer genetics
Chapter 15: Pharmacogenetics, personalised medicine, and the treatment of genetic disease
Chapter C: Clinical Genetics, Counseling and Ethics
Chapter 16: Congenital abnormalities, dysmorphic syndromes, and learning disability
Chapter 17: Chromosome disorders
Chapter 18: Inborn errors of metabolism
Chapter 19: Mainstream monogenic disorders
Chapter 20: Prenatal testing and reproductive genetics
Chapter 21: Genetic counseling
Chapter 22: Ethical and legal issues in medical genetics
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