Found: 12
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Evaluation of genome-wide power of genetic association studies based on empirical data from the HapMap project.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3494, doi. 10.1093/hmg/ddm205
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- Article
Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3517, doi. 10.1093/hmg/ddm207
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- Article
Evidence for a direct role of the disease modifier SCNM1 in splicing.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3506, doi. 10.1093/hmg/ddm206
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- Article
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3453, doi. 10.1093/hmg/ddm201
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- Article
Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3377, doi. 10.1093/hmg/ddm083
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- Article
A novel family of transmembrane proteins interacting with β subunits of the Na,K-ATPase.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3394, doi. 10.1093/hmg/ddm167
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- Article
Crx activates opsin transcription by recruiting HAT-containing co-activators and promoting histone acetylation.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3433, doi. 10.1093/hmg/ddm200
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- Publication type:
- Article
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3411, doi. 10.1093/hmg/ddm198
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- Article
Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3463, doi. 10.1093/hmg/ddm202
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- Publication type:
- Article
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3482
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- Publication type:
- Article
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons†.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3472, doi. 10.1093/hmg/ddm203
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- Publication type:
- Article
Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 20, p. 3423, doi. 10.1093/hmg/ddm199
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- Article