Found: 13
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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117
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- Article
Learning impairments and molecular changes in the brain caused by β-catenin loss.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2965, doi. 10.1093/hmg/ddz115
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- Article
Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2862, doi. 10.1093/hmg/ddz098
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- Article
A mouse model of Proteus syndrome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2920, doi. 10.1093/hmg/ddz116
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- Article
PTEN modulates gene transcription by redistributing genome-wide RNA polymerase II occupancy.
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- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2826, doi. 10.1093/hmg/ddz112
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- Article
Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice.
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- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2874, doi. 10.1093/hmg/ddz103
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- Article
Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2851, doi. 10.1093/hmg/ddz102
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- Article
Tissue-specific sex differences in human gene expression.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2976, doi. 10.1093/hmg/ddz090
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- Article
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2900, doi. 10.1093/hmg/ddz111
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- Article
Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice.
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- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2952, doi. 10.1093/hmg/ddz123
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- Article
Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
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- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2885, doi. 10.1093/hmg/ddz109
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- Article
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2811, doi. 10.1093/hmg/ddz080
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- Publication type:
- Article
Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 17, p. 2835, doi. 10.1093/hmg/ddz107
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- Article