Found: 12
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TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 587, doi. 10.1038/jhg.2012.73
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- Article
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 555, doi. 10.1038/jhg.2012.88
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- Article
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 613, doi. 10.1038/jhg.2012.70
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- Article
The functional significance of microRNA-375 in human squamous cell carcinoma: aberrant expression and effects on cancer pathways.
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 556, doi. 10.1038/jhg.2012.75
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- Article
Patient-derived iPS cells for unveiling the molecular pathology of Pelizaeus-Merzbacher disease: a commentary on 'Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication'
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 553, doi. 10.1038/jhg.2012.85
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- Article
A novel test of informative missingness using inconsistent linkage disequilibrium signals between case-parent triads and incomplete data.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 601, doi. 10.1038/jhg.2012.78
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- Article
Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 593, doi. 10.1038/jhg.2012.77
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- Article
Mitochondrial haplogroup C in ancient mitochondrial DNA from Ukraine extends the presence of East Eurasian genetic lineages in Neolithic Central and Eastern Europe.
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 610, doi. 10.1038/jhg.2012.69
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- Article
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
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- Journal of Human Genetics, 2012, v. 57, n. 9, p. 564, doi. 10.1038/jhg.2012.65
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- Publication type:
- Article
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 580, doi. 10.1038/jhg.2012.71
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- Publication type:
- Article
Admixture and population structure in Mexican-Mestizos based on paternal lineages.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 568, doi. 10.1038/jhg.2012.67
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- Publication type:
- Article
High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 575, doi. 10.1038/jhg.2012.68
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- Publication type:
- Article