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Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029729
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- Publication type:
- Article
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.
- Published in:
- 2007
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- Publication type:
- journal article
Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 6, p. 609, doi. 10.1002/ana.21221
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- Publication type:
- Article
Novel recruitment strategy to enrich for LRRK2 mutation carriers.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 404, doi. 10.1002/mgg3.151
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- Publication type:
- Article
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 1, doi. 10.1002/humu.20393
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- Publication type:
- Article
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
- Published in:
- 2011
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- Publication type:
- Letter
Mutation in 5′ upstream region of GCHI gene causes familial dopa-responsive dystonia.
- Published in:
- Movement Disorders, 2011, v. 26, n. 11, p. 2140, doi. 10.1002/mds.23786
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- Publication type:
- Article
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 50, doi. 10.1186/1471-2350-13-50
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- Publication type:
- Article