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Emery's Elements of Medical Genetics

Emery's Elements of Medical Genetics

Autorzy
Wydawnictwo Elsevier, München
Data wydania 2017
Liczba stron 416
Forma publikacji książka w miękkiej oprawie
Język angielski
ISBN 9780702066856
Kategorie Genetyka medyczna
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Opis książki

Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery's enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries and convenient online access, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge.

Emery's Elements of Medical Genetics

Spis treści

Preface

Introduction

1 The history and impact of genetics in medicine

A. The Scientific Basis of Human Genetics

2 The cellular and molecular basis of inheritance

3 Chromosomes and cell division

4 Finding the cause of monogenic disorders by identifying disease genes

5 Laboratory techniques for diagnosis of monogenic disorders

6 Patterns of inheritance

7 Population and mathematical genetics

8 Risk calculation

9 Developmental genetics

B. Genetics in Medicine and Genomic Medicine

10 Common disease, polygenic and multifactorial genetics

11 Screening for genetic disease

12 Hemoglobin and hemoglobinopathies

13 Immunogenetics

14 The genetics of cancer ... and cancer genetics

15 Pharmacogenetics, personalised medicine, and the treatment of genetic disease

C. Clinical Genetics, Counseling and Ethics

16 Congenital abnormalities, dysmorphic syndromes, and learning disability

17 Chromosome disorders

18 Inborn errors of metabolism

19 Mainstream monogenic disorders

20 Prenatal testing and reproductive genetics

21 Genetic counseling

22 Ethical and legal issues in medical genetics

Glossary

Appendix of websites

MCQs

Case-Based Qs

MCQ Answers

Case-Based Q Answers

Index

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