Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 6
Results: 15
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1093, doi. 10.1093/hmg/ddy031
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- Article
Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1078, doi. 10.1093/hmg/ddy029
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- Article
Genome-wide comparison of allele-specific gene expression between African and European populations.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1067, doi. 10.1093/hmg/ddy027
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- Article
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1055, doi. 10.1093/hmg/ddy026
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- Article
Analysis of experience-regulated transcriptome and imprintome during critical periods of mouse visual system development reveals spatiotemporal dynamics.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1039, doi. 10.1093/hmg/ddy023
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- Article
The female epilepsy protein PCDH19 is a new GABA<sub>A</sub>R-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1027, doi. 10.1093/hmg/ddy019
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- Article
Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and mis-splicing in Fuchs’ dystrophy.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1015, doi. 10.1093/hmg/ddy018
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- Article
RAGE mediates Aβ accumulation in a mouse model of Alzheimer’s disease via modulation of β- and γ-secretase activity.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1002, doi. 10.1093/hmg/ddy017
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- Article
Effect of diazoxide on Friedreich ataxia models.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 992, doi. 10.1093/hmg/ddy016
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- Article
Pathophysiological analyses of leptomeningeal heterotopia using gyrencephalic mammals.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 985, doi. 10.1093/hmg/ddy014
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- Article
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 969, doi. 10.1093/hmg/ddy013
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- Article
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 6, p. 954, doi. 10.1093/hmg/ddy012
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- Article
Functional rescue of misfolding ABCA3 mutations by small molecular correctors.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 943, doi. 10.1093/hmg/ddy011
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- Article
CORRIGENDUM: Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1122, doi. 10.1093/hmg/ddx439
- Publication type:
- Article
Deep molecular phenotypes link complex disorders and physiological insult to CpG methylation.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 6, p. 1106, doi. 10.1093/hmg/ddy006
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- Article