Found: 21
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mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-257
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- Article
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-41483-9
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- Article
Integrating common and rare genetic variation in diverse human populations.
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- Nature, 2010, v. 467, n. 7311, p. 52, doi. 10.1038/nature09298
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- Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
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- Article
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 4, doi. 10.1002/acn3.361
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- Article
European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 309, doi. 10.1038/ejhg.2009.180
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- Article
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia.
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- Nature Genetics, 2006, v. 38, n. 2, p. 214, doi. 10.1038/ng1712
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- Article
Longitudinal study shows increasing obesity and hyperglycemia in micronesia.
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- Obesity (19307381), 2013, v. 21, n. 9, p. E421, doi. 10.1002/oby.20041
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- Article
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 214, doi. 10.1111/cge.14085
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- Article
Systematic review of mortality and survival rates for APDS.
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- Clinical & Experimental Medicine, 2024, v. 24, n. 1, p. 1, doi. 10.1007/s10238-023-01259-y
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- Article
Rare diseases and space health: optimizing synergies from scientific questions to care.
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- NPJ Microgravity, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41526-022-00224-5
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- Article
WDR62 missense mutation in a consanguineous family with primary microcephaly.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 622, doi. 10.1002/ajmg.a.34417
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- Article
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-83
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- Article
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
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- Human Mutation, 2019, v. 40, n. 12, p. 2414, doi. 10.1002/humu.23898
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- Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
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- Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
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- Article
Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.
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- Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398
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- Article
Loss‐of‐function mutations in <italic>ISCA2</italic> disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
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- Human Mutation, 2018, v. 39, n. 4, p. 537, doi. 10.1002/humu.23396
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- Article
FBXL4 -Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00039
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- Article
Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α.
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- Nature Neuroscience, 2014, v. 17, n. 8, p. 1073, doi. 10.1038/nn.3754
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- Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
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- Article
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2917, doi. 10.1002/ajmg.a.35608
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- Article