Found: 27
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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34112-z
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- Publication type:
- Article
The role of Sis1 in the maintenance of the [RNQ<sup>+</sup>] prion.
- Published in:
- EMBO Journal, 2001, v. 20, n. 10, p. 2435, doi. 10.1093/emboj/20.10.2435
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- Publication type:
- Article
Rod bipolar cell dysfunction in POLG retinopathy.
- Published in:
- Documenta Ophthalmologica, 2021, v. 142, n. 1, p. 111, doi. 10.1007/s10633-020-09777-w
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- Publication type:
- Article
DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction.
- Published in:
- Biochemical Genetics, 2018, v. 56, n. 1/2, p. 56, doi. 10.1007/s10528-017-9829-2
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- Publication type:
- Article
Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury.
- Published in:
- 2018
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- Publication type:
- journal article
Reply.
- Published in:
- Environmental & Molecular Mutagenesis, 2019, v. 60, n. 5, p. 465, doi. 10.1002/em.22181
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- Publication type:
- Article
Mitochondrial DNA, nuclear context, and the risk for carcinogenesis.
- Published in:
- Environmental & Molecular Mutagenesis, 2019, v. 60, n. 5, p. 455, doi. 10.1002/em.22169
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- Publication type:
- Article
Effect of vitamin E on transport processes in isolated rat hepatocytes.
- Published in:
- 1990
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- Publication type:
- journal article
Higher Order Organization of the mtDNA: Beyond Mitochondrial Transcription Factor A.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01285
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- Publication type:
- Article
Diverse topological requirements for mitochondrial transcription (573.5).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.573.5
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- Publication type:
- Article
An Infant Refugee with Anemia and Low Serum Vitamin B<sub>12</sub>.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 11, p. 1567, doi. 10.1373/clinchem.2017.283283
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- Publication type:
- Article
Newborn Screening by Sequence and the Road Ahead.
- Published in:
- Clinical Chemistry, 2013, v. 59, n. 7, p. 1011, doi. 10.1373/clinchem.2013.205864
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- Publication type:
- Article
Utility of metabolic screening in neurological presentations of infancy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 7, p. 1132, doi. 10.1002/acn3.51076
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- Publication type:
- Article
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 613, doi. 10.1111/cge.13844
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- Publication type:
- Article
Analysis of cerebrospinal fluid mitochondrial DNA levels in Alzheimer disease.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 3, p. 458, doi. 10.1002/ana.24107
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- Publication type:
- Article
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 452, doi. 10.1002/mgg3.156
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- Publication type:
- Article
Characterization of mitochondrial health from human peripheral blood mononuclear cells to cerebral organoids derived from induced pluripotent stem cells.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84071-6
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- Publication type:
- Article
High-dose continuous renal replacement therapy for neonatal hyperammonemia.
- Published in:
- 2013
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- Publication type:
- Report
Mitochondrial tRNA mutation as a cause of end-stage renal disease in childhood.
- Published in:
- 2013
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- Publication type:
- Report
G-quadruplex-mediated reduction of a pathogenic mitochondrial heteroplasmy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 19, p. 3163, doi. 10.1093/hmg/ddz153
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- Publication type:
- Article
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2028, doi. 10.1002/humu.24107
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- Publication type:
- Article
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 816, doi. 10.1002/humu.23742
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- Publication type:
- Article
Neutral mitochondrial heteroplasmy and the influence of aging.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 8, p. 1653, doi. 10.1093/hmg/ddr043
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- Publication type:
- Article
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
- Published in:
- 2018
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- Publication type:
- journal article
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
- Published in:
- Canadian Journal of Neurological Sciences, 2019, v. 46, n. 6, p. 717, doi. 10.1017/cjn.2019.240
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- Publication type:
- Article
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.
- Published in:
- Pediatric Transplantation, 2020, v. 24, n. 4, p. 1, doi. 10.1111/petr.13718
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- Publication type:
- Article
Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.
- Published in:
- PLoS Computational Biology, 2017, v. 13, n. 12, p. 1, doi. 10.1371/journal.pcbi.1005867
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- Publication type:
- Article