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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
- Published in:
- 2012
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- Correction Notice
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 585, doi. 10.1038/ng.835
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- Article
The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers.
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- Scientific Reports, 2016, p. 20911, doi. 10.1038/srep20911
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- Article
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1702, doi. 10.1038/ejhg.2015.66
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- Article
Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry.
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- EMBO Journal, 2011, v. 30, n. 15, p. 3065, doi. 10.1038/emboj.2011.224
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- Article
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1497, doi. 10.1093/hmg/ddac311
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- Article
De novo TBR1 mutations in sporadic autism disrupt protein functions.
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- Nature Communications, 2014, v. 5, n. 9, p. 4954, doi. 10.1038/ncomms5954
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- Article
Neurogenomics of speech and language disorders: the road ahead.
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- Genome Biology, 2013, v. 14, n. 4, p. 204, doi. 10.1186/gb-2013-14-4-204
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- Article
Erratum to: Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.
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- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4295, doi. 10.1093/hmg/ddy230
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- Article
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.
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- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1212, doi. 10.1093/hmg/ddy035
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- Article
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
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- Human Molecular Genetics, 2016, v. 25, n. 3, p. 546, doi. 10.1093/hmg/ddv495
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- Article
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.
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- Human Mutation, 2017, v. 38, n. 11, p. 1542, doi. 10.1002/humu.23303
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- Article
Functional characterization of TBR1 variants in neurodevelopmental disorder.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-32053-6
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- Article
Insights into the Genetic Foundations of Human Communication.
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- Neuropsychology Review, 2015, v. 25, n. 1, p. 3, doi. 10.1007/s11065-014-9277-2
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- Article
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
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- PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683
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- Article