| Description |
1 online resource : illustrations |
| Contents |
The history and impact of genetics in medicine -- Section A: The scientific basis of human genetics -- The cellular and molecular basis of inheritance -- Chromosomes and cell division -- Finding the cause of monogenic disorders by identifying disease genes -- Laboratory techniques for diagnosis of monogenic disorders -- Patterns of inheritance -- Population and mathematical genetics -- Risk calculation -- Developmental genetics -- Section B: Genetics in medicine and genomic medicine -- Common disease, polygenic and multifactorial genetics -- Screening for genetic disease -- Hemoglobin and the hemoglobinopathies -- Immunogenetics -- The genetics of cancer and cancer genetics -- Pharmacogenetics, precision medicine and the treatment of genetic disease -- Section C: Clinical genetics, counseling, and ethics -- Congenital, abnormalities, dysmorphic syndromes, and learning disability -- Chromosome disorders -- Inborn errors of metabolism -- Mainstream monogenetic disorders -- Prenatal testing and reproductive genetics -- Genetic counseling -- Ethical and legal issues in medical genetics |
| Summary |
The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics. Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. -- Publisher |
| Notes |
Revised edition of: Emery's elements of medical genetics / Peter D. Turnpenny, Sian Ellard. 15th edition. ©2017 |
| Bibliography |
Includes bibliographical references |
| Notes |
Online resource; title from table of contents page (Elsevier ClinicalKey, viewed March 5, 2021) |
| Subject |
Medical genetics.
|
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Genomics.
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Genetics, Medical
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|
Genomics
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Genetic Diseases, Inborn. http://id.nlm.nih.gov/mesh/D030342
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Genomics
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Medical genetics
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| Form |
Electronic book
|
| Author |
Ellard, Sian, author.
|
|
Cleaver, Ruth, author
|
| ISBN |
9780702079665 |
|
0702079669 |
|
