Found: 4
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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The clinical spectrum of nodular heterotopias in children: Report of 31 patients.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 4, p. 728, doi. 10.1111/j.1528-1167.2010.02975.x
- By:
- Publication type:
- Article
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.
- Published in:
- PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
- By:
- Publication type:
- Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1134, doi. 10.1002/mgg3.492
- By:
- Publication type:
- Article