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Emery's elements of medical genetics and genomics / Peter D, Turnpenny, Sian Ellars, Ruth Cleaver
By: Turnpenny, Peter D [autor]
| Ellard, Sian [autor] | Cleaver, Ruth [autor].
Material type: 
TextPublisher: Amsterdam : Elsevier, 2022Edition: Decimosexta edición.Description: vii, 433 páginas : fotos, ilustraciones, tablas ; 27 x 21 cm.ISBN: 9780702079665.Subject(s): Genética médica | GenómicaDDC classification: 616.042 T956e 2022
Contents:
1. The history and Impact of Genetics in Medicine |
SECTION A: THE SCIENTIFC BASIS OF HUMAN GENETICS |
2. The Celullar and Molecular Basis of Inheritance |
3. Chromosomes and Cell División |
4. Finding the Cause of Monogenica 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. Developmet Genetics |
SECTION B: GENETICS IN MEDICINE AND GENOMIC MEDICINA |
10. Common Disease, Polygenic, and Multifactorial Genetis |
11. Screening for Genetic Disease |
12. Hemoglobin and the Hemoglobinopathies |
13. Inmunogenetics |
14. The Genetics of Cancer and Cancer Genetics |
15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease |
SECTION C: CLINICAL GENETICS, COUNSELING, AND ETHICS |
16. Congenital Abnormalities, Dysmorphic Syndrome, and Intellectual Disability |
17.Chromosome Disorders |
18. Inborn Error of Metabolism |
19. Mainstream Monogenic Disorders |
20. Prenatal Testing and Reproductive Genetics |
21. Genetic Counseling |
22. Ethical and Legal Issues in Medical Genetics |
Appendix: Websites and Clinical Databases |
Multiple-Choice Questions |
Case-Based Questions |
Multiple-Choise Answers |
Case-Based Answers and Discussion |
Clinical Scenario Answers and Discussion |
| Item type | Current location | Collection | Call number | Copy number | Status | Date due | Barcode |
|---|---|---|---|---|---|---|---|
| Libro (reserva) | Biblioteca Central UNIBE | Reserva | 616.042 T956e 2022 (Browse shelf) | Ej. 1 | Available | 220611 | |
| Libro (general) | Biblioteca Central UNIBE | General | 616.042 T956e 2022 (Browse shelf) | Ej. 2 | Available | 220612 |
Incluye prefacio, agradecimientos, dedicatoria, glosario, apéndices, índice y comentario de la obra en la contraportada
1. The history and Impact of Genetics in Medicine |
SECTION A: THE SCIENTIFC BASIS OF HUMAN GENETICS |
2. The Celullar and Molecular Basis of Inheritance |
3. Chromosomes and Cell División |
4. Finding the Cause of Monogenica 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. Developmet Genetics |
SECTION B: GENETICS IN MEDICINE AND GENOMIC MEDICINA |
10. Common Disease, Polygenic, and Multifactorial Genetis |
11. Screening for Genetic Disease |
12. Hemoglobin and the Hemoglobinopathies |
13. Inmunogenetics |
14. The Genetics of Cancer and Cancer Genetics |
15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease |
SECTION C: CLINICAL GENETICS, COUNSELING, AND ETHICS |
16. Congenital Abnormalities, Dysmorphic Syndrome, and Intellectual Disability |
17.Chromosome Disorders |
18. Inborn Error of Metabolism |
19. Mainstream Monogenic Disorders |
20. Prenatal Testing and Reproductive Genetics |
21. Genetic Counseling |
22. Ethical and Legal Issues in Medical Genetics |
Appendix: Websites and Clinical Databases |
Multiple-Choice Questions |
Case-Based Questions |
Multiple-Choise Answers |
Case-Based Answers and Discussion |
Clinical Scenario Answers and Discussion |