Found: 13
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Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 1933, doi. 10.1093/hmg/ddz317
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- Article
The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 1950, doi. 10.1093/hmg/ddz296
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- Article
The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2076, doi. 10.1093/hmg/ddaa096
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- Article
Colocalization of Oxtr with Prader-Willi syndrome transcripts in the trigeminal ganglion of neonatal mice.
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- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2065, doi. 10.1093/hmg/ddaa094
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- Article
Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
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- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2035, doi. 10.1093/hmg/ddaa093
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- Article
Corrigendum to: Drosophila clueless is involved in Parkin-dependent mitophagy by promoting VCP-mediated Marf degradation.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2107, doi. 10.1093/hmg/ddaa092
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- Article
Loss of Snord116 alters cortical neuronal activity in mice: a preclinical investigation of Prader–Willi syndrome.
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- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2051, doi. 10.1093/hmg/ddaa084
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- Article
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2022, doi. 10.1093/hmg/ddaa057
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- Article
Tmc proteins are essential for zebrafish hearing where Tmc1 is not obligatory.
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- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2004, doi. 10.1093/hmg/ddaa045
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- Article
Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.
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- Human Molecular Genetics, 2020, v. 29, n. 12, p. 1996, doi. 10.1093/hmg/ddaa035
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- Article
Common variation at 16p11.2 is associated with glycosuria in pregnancy: findings from a genome-wide association study in European women.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 2098, doi. 10.1093/hmg/ddaa054
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- Publication type:
- Article
Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 1986, doi. 10.1093/hmg/ddaa021
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- Publication type:
- Article
Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 12, p. 1969, doi. 10.1093/hmg/ddaa027
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- Publication type:
- Article