Found: 11
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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 2, p. 519, doi. 10.1172/JCI59526
- By:
- Publication type:
- Article
Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1238
- By:
- Publication type:
- Article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
- Published in:
- Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
- By:
- Publication type:
- Article
Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
- Published in:
- Genes, Brain & Behavior, 2024, v. 23, n. 1, p. 1, doi. 10.1111/gbb.12882
- By:
- Publication type:
- Article
Rare copy number variation in extremely impulsively violent males.
- Published in:
- Genes, Brain & Behavior, 2019, v. 18, n. 6, p. N.PAG, doi. 10.1111/gbb.12536
- By:
- Publication type:
- Article
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F<sub>1</sub>F<sub>o</sub> ATP synthase deficiency.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-38
- By:
- Publication type:
- Article
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 18, p. 2822, doi. 10.1093/hmg/ddad109
- By:
- Publication type:
- Article
Integration of Innovative Methods into the Teaching of Literature in Lower-Secondary Schools.
- Published in:
- New Educational Review, 2023, v. 73, n. 3, p. 175, doi. 10.15804/tner.23.73.3.13
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- Publication type:
- Article
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.
- Published in:
- Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad295
- By:
- Publication type:
- Article
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.
- Published in:
- Prague Medical Report, 2020, v. 121, n. 3, p. 153, doi. 10.14712/23362936.2020.14
- By:
- Publication type:
- Article