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Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 15, p. 2984, doi. 10.1093/hmg/ddt155
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- Article
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1816, doi. 10.1093/hmg/ddt035
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- Publication type:
- Article
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1127, doi. 10.1038/ng2100
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- Publication type:
- Article
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5250, doi. 10.1093/hmg/ddv245
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- Article