Found: 13
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Fulminant Neonatal Liver Failure in Siblings: Probable Congenital Hemophagocytic Lymphohistiocytosis.
- Published in:
- Pediatric & Developmental Pathology, 2006, v. 9, n. 3, p. 239, doi. 10.2350/06-01-0005.1
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- Publication type:
- Article
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 134, doi. 10.1038/jhg.2013.134
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- Publication type:
- Article
Brain γ-glutamyl cysteine synthetase (GCS) mRNA expression patterns correlate with regional-specific enzyme activities and glutathione levels.
- Published in:
- Journal of Neuroscience Research, 1999, v. 58, n. 3, p. 436, doi. 10.1002/(SICI)1097-4547(19991101)58:3<436::AID-JNR9>3.0.CO;2-B
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- Publication type:
- Article
The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 607, doi. 10.1038/ejhg.2011.259
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- Publication type:
- Article
The tRNA<sup>Met</sup> 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1181, doi. 10.1038/ejhg.2011.111
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- Article
Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01809-9
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- Publication type:
- Article
Mitochondrial tRNA variants in Chinese subjects with coronary heart disease.
- Published in:
- 2014
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- Publication type:
- journal article
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1515, doi. 10.1093/hmg/ddy450
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- Publication type:
- Article
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 584, doi. 10.1093/hmg/ddv498
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- Publication type:
- Article
Coronary heart disease is associated with a mutation in mitochondrial tRNA.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4064, doi. 10.1093/hmg/ddt256
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- Publication type:
- Article
Mitochondrial tRNA mutations are associated with maternally inherited hypertension in two Han Chinese pedigrees.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1285, doi. 10.1002/humu.22109
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- Publication type:
- Article
Development of Human-Derived Cell Culture Lines for Recurrent Respiratory Papillomatosis.
- Published in:
- 2018
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- Publication type:
- journal article
Vav3 oncogene activates estrogen receptor and its overexpression may be involved in human breast cancer.
- Published in:
- BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-158
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- Publication type:
- Article