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An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2385, doi. 10.1093/hmg/ddh278
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- Publication type:
- Article
Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 6, p. 583, doi. 10.1111/j.1469-8749.2010.03619.x
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- Publication type:
- Article
SNCA variants are associated with increased risk for multiple system atrophy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 5, p. 610, doi. 10.1002/ana.21685
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- Publication type:
- Article