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Behavioural flexibility in individuals with Angelman syndromehot!
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05.05.2008
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Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder R. Didden,J. Sigafoos,V. A. Green, H. Korzilius,1 C. Mouws, G. E. Lancioni, M. F. O’Reilly,L. M. G. Curfs
Journal of Intellectual Disability Research doi: 10.1111/j.1365-2788.2008.01055.
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Preference for water-related items in Angelman
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05.05.2008
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Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability Didden, Robert, Korzilius, Hubert, Sturmey, Peter, Lancioni, Giulio E. and Curfs, Leopold M. G. Journal of Intellectual & Developmental Disability, 33:1, 59 - 64
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SLC9A6 Mutations Cause X-Linked Ment. Retard.,Microcephaly, Epil. & Ataxia, a Phenotype Mimicking AShot!
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21.03.2008
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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
Gilfillan et al. The American Journal of Human Genetics (2008), doi:10.1016/j.ajhg.2008.01.013
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Regulation of turnover of tumor suppressor p53 and cell growthhot!
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17.01.2008
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Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome A. Mishra and N. R. Jana* Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre,Manesar, Gurgaon 122 050, (India), Fax: +91-124-2338910, e-mail: nihar@nbrc.ac.in
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AS ubi. lig. localiz. to synapse and nucleus & matern. def. results in abnorm. dendritic spine morphhot!
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03.11.2007
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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Scott V. Dindot, Barbara A. Antalffy, Meenakshi B. Bhattacharjee and Arthur L. Beaudet Hum Mol Genet. 2007 Oct 16
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