Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 4
Results: 21
Targeted resequencing of two genes, RAGE and POLL, confirms findings from a genome-wide scan for adaptive evolution and provides evidence for positive selection in additional populations.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 779, doi. 10.1093/hmg/ddn399
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- Article
Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 595, doi. 10.1093/hmg/ddn384
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- Article
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 621, doi. 10.1093/hmg/ddn387
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- Article
Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 632, doi. 10.1093/hmg/ddn389
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- Article
GRM7 variants confer susceptibility to age-related hearing impairment.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 785, doi. 10.1093/hmg/ddn402
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- Article
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401
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- Article
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 655, doi. 10.1093/hmg/ddn395
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp040
- Publication type:
- Article
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 607, doi. 10.1093/hmg/ddn386
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- Article
Cover Page.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp038
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- Article
Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 679, doi. 10.1093/hmg/ddn397
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- Article
Differential nuclear scaffold/matrix attachment marks expressed genes†.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 645, doi. 10.1093/hmg/ddn394
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- Article
Effects of overexpression of Huntingtin proteins on mitochondrial integrity.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 737, doi. 10.1093/hmg/ddn404
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- Publication type:
- Article
Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 723, doi. 10.1093/hmg/ddn403
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- Article
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 767, doi. 10.1093/hmg/ddn388
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- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp037
- Publication type:
- Article
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 667, doi. 10.1093/hmg/ddn396
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- Article
Altered serotonin receptor expression is associated with depression-related behavior in the R6/1 transgenic mouse model of Huntington's disease.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 753, doi. 10.1093/hmg/ddn385
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- Article
The malin–laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin–proteasome system.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 688, doi. 10.1093/hmg/ddn398
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- Article
Editorial Board.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp039
- Publication type:
- Article
Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 701, doi. 10.1093/hmg/ddn400
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- Article