Found: 6
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Novel point mutations in the dystrophin gene.
- Published in:
- Human Mutation, 1997, v. 10, n. 3, p. 217, doi. 10.1002/(SICI)1098-1004(1997)10:3<217::AID-HUMU7>3.0.CO;2-F
- By:
- Publication type:
- Article
Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 45, doi. 10.1002/jmd2.12107
- By:
- Publication type:
- Article
LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.
- Published in:
- Journal of Molecular Neuroscience, 2019, v. 69, n. 4, p. 623, doi. 10.1007/s12031-019-01390-0
- By:
- Publication type:
- Article
Central core myopathy with autophagy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 382, doi. 10.1002/mgg3.382
- By:
- Publication type:
- Article
Characterizing the molecular phenotype of an Atp7a<sup>T985I</sup> conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
- Published in:
- Metallomics, 2016, v. 8, n. 9, p. 981, doi. 10.1039/c6mt00082g
- By:
- Publication type:
- Article