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Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/9628049
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- Article
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 303, doi. 10.3390/ijms24010303
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- Article
A Novel Automated Approach for Improving Standardization of the Marble Burying Test Enables Quantification of Burying Bouts and Activity Characteristics.
- Published in:
- eNeuro, 2022, v. 9, n. 2, p. 1, doi. 10.1523/ENEURO.0446-21.2022
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- Article
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 430, doi. 10.1093/hmg/ddab050
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- Article
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82319-9
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- Article
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1481
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- Article