Found: 7
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Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Dystonia-deafness syndrome caused by <italic>ACTB</italic> p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.
- Published in:
- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9235-z
- By:
- Publication type:
- Article
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 711, doi. 10.1002/humu.22997
- By:
- Publication type:
- Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
- Published in:
- Human Mutation, 2016, v. 37, n. 4, p. 359, doi. 10.1002/humu.22960
- By:
- Publication type:
- Article
Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects.
- Published in:
- Clinical Genetics, 1993, v. 44, n. 4, p. 214, doi. 10.1111/j.1399-0004.1993.tb03883.x
- By:
- Publication type:
- Article