1 Phenotype and Functional Genomics: Introduction .............. 3
2 Evolution ................................................... 16
3 Genomic Architecture and Copy Number Changes ................ 35
4 Linkage, Association, and Linkage Disequilibrium ............ 54
5 Regulation of Transcription, Splicing and Translation:
Impact of Perturbation on Phenotype ......................... 68
6 Mitochondria: Genome, Functions, and Phenotype .............. 94
7 Quality Surveillance ....................................... 121
8 Neurodevelopment and Functional Genomics ................... 139
9 Neurobehavioral Disorders .................................. 162
10 Molecular Analyses of Malformation Syndromes ............... 181
11 Multiple Pathways including Environmental Factors that
Lead to a Specific Phenotype with Later Onset .............. 189
12 Epilogue ................................................... 197
References .................................................... 200
Index ......................................................... 229
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