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Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
- Published in:
- 2008
- By:
- Publication type:
- journal article
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1065, doi. 10.1093/hmg/ddn443
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- Publication type:
- Article
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 3965
- By:
- Publication type:
- Article
Identification of Novel Genes Involved in Migraine.
- Published in:
- Headache: The Journal of Head & Face Pain, 2012, v. 52, p. 107, doi. 10.1111/j.1526-4610.2012.02237.x
- By:
- Publication type:
- Article
Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder<sup>1</sup>.
- Published in:
- Genome, 2013, v. 56, n. 10, p. 634, doi. 10.1139/gen-2013-0081
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- Publication type:
- Article
WNK1/HSN2 Mutation in Human Peripheral Neuropathy Deregulates KCC2 Expression and Posterior Lateral Line Development in Zebrafish (Danio rerio)
- Published in:
- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003124
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- Publication type:
- Article
A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001318
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- Publication type:
- Article
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.
- Published in:
- Nature Medicine, 2010, v. 16, n. 10, p. 1157, doi. 10.1038/nm.2216
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- Publication type:
- Article
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 6, p. 748, doi. 10.1002/ana.21625
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- Publication type:
- Article
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 4, p. 572, doi. 10.1002/ana.20237
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- Publication type:
- Article
A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1133
- By:
- Publication type:
- Article