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Developmental Disabilities

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  • Cancer genetics may aid diagnostics of developmental disorders  Academic Article
  • De novo KCNB1 mutations in epileptic encephalopathy  Academic Article
  • First reported patient with human ercc1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure  Academic Article
  • Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder  Academic Article
  • Neurobiological similarities in depression and drug dependence: A self-medication hypothesis  Academic Article
  • Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans  Academic Article
  • Sustained expression of brain-derived neurotrophic factor is required for maintenance of dendritic spines and normal behavior  Academic Article

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