Found: 10
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Myofibrillar myopathy presenting with an inclusion body myositis‐like phenotype.
- Published in:
- Muscle & Nerve, 2023, v. 67, n. 5, p. E15, doi. 10.1002/mus.27806
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- Publication type:
- Article
A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053826
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- Publication type:
- Article
Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase autoantibody-positive necrotizing autoimmune myopathy with dermatomyositis-like eruption.
- Published in:
- 2018
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- Publication type:
- Case Study
Giant congenital melanocytic nevus with neurofibroma-like changes and spina bifida occulta.
- Published in:
- International Journal of Dermatology, 2006, v. 45, n. 11, p. 1347, doi. 10.1111/j.1365-4632.2006.02776.x
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- Publication type:
- Article
Wilson’s Disease: A Great Masquerader.
- Published in:
- European Neurology, 2007, v. 57, n. 2, p. 80, doi. 10.1159/000098056
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- Publication type:
- Article
In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane.
- Published in:
- Cell Biology International, 2020, v. 44, n. 2, p. 671, doi. 10.1002/cbin.11268
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- Publication type:
- Article
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 299, doi. 10.1002/humu.21426
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- Publication type:
- Article
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
- Published in:
- Human Mutation, 2009, v. 30, n. 12, p. 1657, doi. 10.1002/humu.21114
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- Publication type:
- Article
Myotonic Dystrophies: A Genetic Overview.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 367, doi. 10.3390/genes13020367
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- Publication type:
- Article
Intravascular T-cell lymphoma: A rare, poorly characterized entity with cytotoxic phenotype.
- Published in:
- Neuropathology, 2017, v. 37, n. 4, p. 365, doi. 10.1111/neup.12376
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- Publication type:
- Article