Found: 24
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Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 430, doi. 10.1093/hmg/ddr462
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- Publication type:
- Article
Population-specific coding variant underlies genome-wide association with adiponectin level.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 463, doi. 10.1093/hmg/ddr480
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr565
- Publication type:
- Article
Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 268, doi. 10.1093/hmg/ddr457
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- Publication type:
- Article
Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 406, doi. 10.1093/hmg/ddr475
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- Publication type:
- Article
Deregulation of the A-to-I RNA editing mechanism in psychiatric disorders.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 311, doi. 10.1093/hmg/ddr461
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- Publication type:
- Article
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 300, doi. 10.1093/hmg/ddr459
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- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr561
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr563
- Publication type:
- Article
NMNAT suppresses Tau-induced neurodegeneration by promoting clearance of hyperphosphorylated Tau oligomers in a Drosophila model of tauopathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 237, doi. 10.1093/hmg/ddr449
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- Publication type:
- Article
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
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- Human Molecular Genetics, 2012, v. 21, n. 2, p. 344, doi. 10.1093/hmg/ddr470
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- Publication type:
- Article
CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 251, doi. 10.1093/hmg/ddr492
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- Publication type:
- Article
Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 287, doi. 10.1093/hmg/ddr458
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- Publication type:
- Article
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 358, doi. 10.1093/hmg/ddr471
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- Publication type:
- Article
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 456, doi. 10.1093/hmg/ddr479
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- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr567
- Publication type:
- Article
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 384, doi. 10.1093/hmg/ddr473
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- Publication type:
- Article
Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 437, doi. 10.1093/hmg/ddr463
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- Publication type:
- Article
Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 394, doi. 10.1093/hmg/ddr474
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- Publication type:
- Article
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 322, doi. 10.1093/hmg/ddr468
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- Publication type:
- Article
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 421, doi. 10.1093/hmg/ddr460
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- Publication type:
- Article
Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 371, doi. 10.1093/hmg/ddr472
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- Publication type:
- Article
Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 446, doi. 10.1093/hmg/ddr478
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- Publication type:
- Article
E-cadherin impairment increases cell survival through Notch-dependent upregulation of Bcl-2.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 334, doi. 10.1093/hmg/ddr469
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- Publication type:
- Article