Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 23
Results: 20
CORRIGENDUM.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5286, doi. 10.1093/hmg/ddw390
- Publication type:
- Article
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5223, doi. 10.1093/hmg/ddw342
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- Article
PNPLA3 overexpression results in reduction of proteins predisposing to fibrosis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5212, doi. 10.1093/hmg/ddw341
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- Article
Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.
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- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5198, doi. 10.1093/hmg/ddw340
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- Article
Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5188, doi. 10.1093/hmg/ddw339
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- Publication type:
- Article
Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5178, doi. 10.1093/hmg/ddw338
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- Publication type:
- Article
Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5083, doi. 10.1093/hmg/ddw337
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- Article
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5276, doi. 10.1093/hmg/ddw336
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- Article
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5265, doi. 10.1093/hmg/ddw333
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- Publication type:
- Article
Myeloid cells are capable of synthesizing aldosterone to exacerbate damage in muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5167, doi. 10.1093/hmg/ddw331
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- Article
Protective effects of reduced dynamin-related protein 1 against amyloid beta-induced mitochondrial dysfunction and synaptic damage in Alzheimer's disease.
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- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5148, doi. 10.1093/hmg/ddw330
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- Article
Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5069, doi. 10.1093/hmg/ddw327
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- Publication type:
- Article
Finding lost genes in GWAS via integrative--omics analysis reveals novel sub-networks associated with preterm birth.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5254, doi. 10.1093/hmg/ddw325
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- Publication type:
- Article
Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5234, doi. 10.1093/hmg/ddw289
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- Article
Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5142, doi. 10.1093/hmg/ddw323
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- Article
Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5126, doi. 10.1093/hmg/ddw322
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- Article
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5111, doi. 10.1093/hmg/ddw315
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- Publication type:
- Article
PINK1 and Parkin are genetic modifiers for FUS-induced neurodegeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5059, doi. 10.1093/hmg/ddw310
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- Publication type:
- Article
Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5244, doi. 10.1093/hmg/ddw324
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- Article
Haploinsufficiency of Klippel-Trenaunay syndrome gene Aggf1 inhibits developmental and pathological angiogenesis by inactivating PI3K and AKT and disrupts vascular integrity by activating VE-cadherin.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5094, doi. 10.1093/hmg/ddw273
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- Article