Genetic disease discovery and therapeutics /
Presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders. This book investigates methodologies applied to the characterization of d...
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| Format: | eBook |
| Language: | English |
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London, United Kingdom ; San Diego, CA, United States ; Cambridge, MA, United States :
Elsevier, Academic Press, an Imprint of Elsevier,
[2025]
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| Online Access: | Connect to the full text of this electronic book |
Table of Contents:
- Front Cover
- GENETIC DISEASE DISCOVERY AND THERAPEUTICS
- GENETIC DISEASE DISCOVERY AND THERAPEUTICS
- Copyright
- Dedication
- Epigraph
- Contents
- Preface
- Acknowledgments
- I
- Disease classification and possible diagnosis
- 1
- Clinical features to consider in a patient with possible genetic disease
- Clinical genetics assessment: History and physical examination
- Family history information
- Resources of information relevant to developmental defects and genetic disorders
- Databases with information on developmental defects and genetic diseases
- Aspects of developmental delay
- Movement disorders and cerebral palsy
- Autism
- Example of clinical care in a patient with a chromosomal disorder: Angelman syndrome
- Access to clinical genetic services
- WHO report on recommendations for community genetic services in low and middle income countries (2010)
- Genetic contributions to the pathogenesis of congenital heart disease
- Emerging techniques
- Chromosome aneuploidies associated with congenital heart disease
- Congenital heart disease in specific chromosome aneuploidies
- Williams syndrome
- Jacobsen syndrome
- Chromosome 1p36.3 deletion syndrome
- Deletion of chromosome 1q21.1
- Holt Oram syndrome