دانلود کتاب Translational Research in Genetics and Genomics

فهرست مطالب :

Contents......Page 14
1. Isolation of Disease Genes Through Genomics......Page 18
2. Advances in Genome Analysis: Discovery of Structural Variation and Genomic Dosage Differences in Health and Disease......Page 36
3. Significance of DNA Sequence Changes for Diagnosis and Therapy......Page 51
4. Epigenetics......Page 71
5. Complex Diseases: Molecular Genetic Contributions to Elucidation of Etiopathogenesis of Late-Onset Neurodegenerative Diseases......Page 78
6. Advances in Treatment of Single Gene Disorders Through Translational Science: Treatment With Small Molecules (Chaperones) and Gene-Based Therapies......Page 110
7. From Gene Discovery in Genetic Syndromes to Identification of Therapeutic Agents......Page 123
8. Impact of the Environment on the Genome......Page 133
9. Molecular Defects in Cancer: Application to Therapy......Page 142
10. Pharmacogenetics and Pharmacogenomics......Page 169
11. Phenomes, Phenotypes, and Clinical Genetic Services......Page 181
References......Page 194
A......Page 222
B......Page 223
C......Page 224
D......Page 225
E......Page 226
G......Page 227
I......Page 228
L......Page 229
M......Page 230
O......Page 231
P......Page 232
S......Page 233
T......Page 234
Y......Page 235