Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 23
Results: 27
A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6395, doi. 10.1093/hmg/ddu335
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- Article
Phosphorodiamidate morpholino oligomers suppress mutant huntingtin expression and attenuate neurotoxicity.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6302, doi. 10.1093/hmg/ddu349
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- Article
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6260, doi. 10.1093/hmg/ddu345
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- Article
Expanding the clinical phenotypes of MT-ATP6 mutations.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6191
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- Article
Subscription Page.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu570
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- Article
Early miR-155 upregulation contributes to neuroinflammation in Alzheimer's disease triple transgenic mouse model.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6286, doi. 10.1093/hmg/ddu348
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- Article
Loss of MITF expression during human embryonic stem cell differentiation disrupts retinal pigment epithelium development and optic vesicle cell proliferation.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6332, doi. 10.1093/hmg/ddu351
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- Article
Contents Page.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu567
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- Article
A genome-wide association study identifies susceptibility loci of silica-related pneumoconiosis in Han Chinese.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6385, doi. 10.1093/hmg/ddu333
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- Article
Neural deletion of Tgfbr2 impairs angiogenesis through an altered secretome.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6177, doi. 10.1093/hmg/ddu338
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- Article
Editorial Board.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu569
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- Article
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6163, doi. 10.1093/hmg/ddu337
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- Article
Altered expression of the imprinted transcription factor PLAGL1 deregulates a network of genes in the human IUGR placenta.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6275, doi. 10.1093/hmg/ddu347
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- Article
Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6246, doi. 10.1093/hmg/ddu344
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- Article
Deficiency of Ube3a in Huntington's disease mice brain increases aggregate load and accelerates disease pathology.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6235, doi. 10.1093/hmg/ddu343
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- Article
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6345, doi. 10.1093/hmg/ddu352
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- Article
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6356, doi. 10.1093/hmg/ddu357
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- Article
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6147, doi. 10.1093/hmg/ddu336
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- Article
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6139, doi. 10.1093/hmg/ddu334
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- Article
Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6201, doi. 10.1093/hmg/ddu340
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- Article
MeCP2 regulates activity-dependent transcriptional responses in olfactory sensory neurons.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6366, doi. 10.1093/hmg/ddu358
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- Article
Lack of CCM1 induces hypersprouting and impairs response to flow.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6223, doi. 10.1093/hmg/ddu342
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- Article
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6407, doi. 10.1093/hmg/ddu346
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- Article
Novel LRRK2 GTP-binding inhibitors reduced degeneration in Parkinson's disease cell and mouse models.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6212
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- Article
Cover Page.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. NP, doi. 10.1093/hmg/ddu568
- Publication type:
- Article
The catecholamine biosynthetic enzyme dopamine β-hydroxylase (DBH): first genome-wide search positions trait-determining variants acting additively in the proximal promoter.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6375, doi. 10.1093/hmg/ddu332
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- Article
SMN regulates axonal local translation via miR-183/mTOR pathway.
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- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6318, doi. 10.1093/hmg/ddu350
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- Article