Found: 12
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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways†.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1682, doi. 10.1093/hmg/ddm116
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- Publication type:
- Article
Missense mutations associated with Diamond–Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1720, doi. 10.1093/hmg/ddm120
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- Article
A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1765, doi. 10.1093/hmg/ddm124
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- Publication type:
- Article
Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1728, doi. 10.1093/hmg/ddm121
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- Article
Impairments in impulse control in mice transgenic for the human FTDP-17 tauV337M mutation are exacerbated by age.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1708, doi. 10.1093/hmg/ddm119
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- Publication type:
- Article
The tumor suppressor merlin interacts with microtubules and modulates Schwann cell microtubule cytoskeleton.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1742, doi. 10.1093/hmg/ddm122
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- Publication type:
- Article
Meta-analysis of association between the ASPN D-repeat and osteoarthritis.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1676, doi. 10.1093/hmg/ddm115
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- Publication type:
- Article
Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1699, doi. 10.1093/hmg/ddm118
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- Publication type:
- Article
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1773, doi. 10.1093/hmg/ddm125
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- Publication type:
- Article
Filamin B mutations cause chondrocyte defects in skeletal development.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1661, doi. 10.1093/hmg/ddm114
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- Publication type:
- Article
An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1752, doi. 10.1093/hmg/ddm123
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- Publication type:
- Article
Identification of a novel role of ZIC3 in regulating cardiac development.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 14, p. 1649, doi. 10.1093/hmg/ddm106
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- Publication type:
- Article