Found: 13
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Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
- Published in:
- Movement Disorders, 2008, v. 23, n. 8, p. 1191, doi. 10.1002/mds.21990
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- Publication type:
- Article
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 921, doi. 10.1186/1471-2164-15-1090
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- Publication type:
- Article
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00855-5
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- Publication type:
- Article
Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 897, doi. 10.1038/ejhg.2012.44
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- Publication type:
- Article
Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 910, doi. 10.1038/ejhg.2012.123
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- Publication type:
- Article
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
- Published in:
- 2017
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- Publication type:
- journal article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
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- Publication type:
- Article
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
- Published in:
- Human Mutation, 2009, v. 30, n. 7, p. E728, doi. 10.1002/humu.21037
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- Publication type:
- Article
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1611838
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- Publication type:
- Article
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
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- Human Mutation, 2021, v. 42, n. 4, p. 378, doi. 10.1002/humu.24173
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- Publication type:
- Article
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2515, doi. 10.1093/hmg/ddx146
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- Publication type:
- Article
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6580, doi. 10.1093/hmg/ddv361
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- Publication type:
- Article
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.652590
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- Publication type:
- Article