Found: 6
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TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Hypoglycemia in patients with congenital muscle disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 48, doi. 10.1002/humu.22691
- By:
- Publication type:
- Article
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2207, doi. 10.1093/hmg/ddx110
- By:
- Publication type:
- Article
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 9, p. 1114, doi. 10.1177/0883073816639718
- By:
- Publication type:
- Article