Emery's elements of medical genetics / Peter D. Turnpenny BSc MB ChB FRCP FRCPCH FRCPath FHEA, Sian Ellard BSc PhD FRCPath.
Material type:
TextPublisher: Amsterdam : Elsevier, 2017Copyright date: ©2017Edition: Edition 15Description: x, 400 pages : illustrations (black and white, and colour) ; 28 cmContent type: - text
- still image
- unmediated
- volume
- 9780702066856
- Elements of medical genetics
- 616.042 23
| Item type | Current library | Call number | Status | |
|---|---|---|---|---|
Цахим ном
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Эрдэм шинжилгээний номын сан Цахим уншлагын танхим | 616.042 | Available |
Previous edition: 2012.
Includes bibliographical references and index.
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, personalized 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.
english