Found: 7
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Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
- Published in:
- Movement Disorders, 2012, v. 27, n. 7, p. 917, doi. 10.1002/mds.24974
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- Publication type:
- Article
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
- Published in:
- Movement Disorders, 2010, v. 25, n. 12, p. 1982, doi. 10.1002/mds.23207
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- Publication type:
- Article
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 99, doi. 10.1038/ejhg.2013.72
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- Publication type:
- Article
A new mutation in enhanced S‐cone syndrome.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 4, p. e281, doi. 10.1111/aos.12573
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- Publication type:
- Article
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
- Published in:
- Journal of Neurochemistry, 2017, v. 143, n. 5, p. 507, doi. 10.1111/jnc.14217
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- Publication type:
- Article
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145951
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- Publication type:
- Article