Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 159, doi. 10.1007/s10048-016-0479-z
- By:
- Publication type:
- Article
Works matching IS 13646745 AND DT 2016 AND VI 17 AND IP 3
Results: 8
1
2
microRNA profiling: increased expression of miR-147a and miR-518e in progressive supranuclear palsy (PSP).
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 165, doi. 10.1007/s10048-016-0480-6
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- Publication type:
- Article
3
Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 179, doi. 10.1007/s10048-016-0481-5
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- Publication type:
- Article
4
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 173, doi. 10.1007/s10048-016-0482-4
- By:
- Publication type:
- Article
5
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 187, doi. 10.1007/s10048-016-0483-3
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- Publication type:
- Article
6
Alzheimer's disease risk genes in wild-type adult zebrafish exhibit gender-specific expression changes during aging.
- Published in:
- 2016
- By:
- Publication type:
- Letter
7
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 191, doi. 10.1007/s10048-016-0488-y
- By:
- Publication type:
- Article
8
Up-regulation of SNCA gene expression: implications to synucleinopathies.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 145, doi. 10.1007/s10048-016-0478-0
- By:
- Publication type:
- Article