Found: 4
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Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes.
- Published in:
- 2019
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- Publication type:
- journal article
Cytochrome c oxidase deficiency in leigh syndrome.
- Published in:
- Annals of Neurology, 1987, v. 22, n. 4, p. 498, doi. 10.1002/ana.410220409
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- Publication type:
- Article
Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.
- Published in:
- 1994
- By:
- Publication type:
- journal article
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1469, doi. 10.1002/humu.24056
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- Publication type:
- Article