Found: 3
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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
- Published in:
- 2016
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- Publication type:
- journal article
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
- Published in:
- 2015
- By:
- Publication type:
- journal article
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1555, doi. 10.1002/humu.23301
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- Publication type:
- Article