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Emery's elements of medical genetics / Peter D. Turnpenny, Sian Ellard
By: Turnpenny, Peter D [author.]
.
Contributor(s): Ellard, Sian.
Material type: 
TextPublisher: New York : Elsevier, 2017Edition: Decimoquinta edición.Description: x, 400 páginas : ilustraciones en color, gráficos ; 22 x 28 cm.ISBN: 9780702066856.Subject(s): Genética médica | Enfermedades genéticasDDC classification: 616.042 T956e 2017
Contents:
1. The history and impact of genetics in medicine
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
GENETICS IN MEDICINE AND GENOMIC MEDICINE
10. Common disease, polygenic and multifactorial genetics
11. Screening for genetic disease
12. Hemoglobin and the hemoglobinopathies
13. Inmunogenetics
14. The genetics of cancer... and cancer genetics
15. Pharmacogenetics, personalized medicine and the treatment of genetic disease
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
| Item type | Current location | Collection | Call number | Copy number | Status | Date due | Barcode |
|---|---|---|---|---|---|---|---|
| Libro (reserva) | Biblioteca Central UNIBE | Reserva | 616.042 T956e 2017 (Browse shelf) | Ej.1 | Available | 180202 |
Browsing Biblioteca Central UNIBE Shelves , Collection code: Reserva Close shelf browser
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| 616.026 H323p 2022 Harrison's principles of internal medicine | 616.026 H323p 2022 Harrison's principles of internal medicine | 616.042 J82g 2016 Genética médica / | 616.042 T956e 2017 Emery's elements of medical genetics / | 616.042 T956e 2022 Emery's elements of medical genetics and genomics / | 616.042 T956em 2018 Emery, elementos de genética médica / | 616.07 K963r 2015 Robbins y Cotran patología estructural y funcional / |
Este libro también está disponible en formato electrónico para acceso en línea: https://elsevierelibrary.co.uk/product/emerys-elements-medical-genetics85248
Incluye bibliografía e índice
1. The history and impact of genetics in medicine
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
GENETICS IN MEDICINE AND GENOMIC MEDICINE
10. Common disease, polygenic and multifactorial genetics
11. Screening for genetic disease
12. Hemoglobin and the hemoglobinopathies
13. Inmunogenetics
14. The genetics of cancer... and cancer genetics
15. Pharmacogenetics, personalized medicine and the treatment of genetic disease
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