Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 19
Results: 13
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3290, doi. 10.1093/hmg/ddac113
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- Article
Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer's disease.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3355, doi. 10.1093/hmg/ddac126
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- Article
Identifying candidate genes and drug targets for Alzheimer's disease by an integrative network approach using genetic and brain region-specific proteomic data.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3341, doi. 10.1093/hmg/ddac124
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- Article
Genetic and pharmacological PARP inhibition reduces axonal degeneration in C. elegans models of ALS.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3313, doi. 10.1093/hmg/ddac116
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- Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114
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- Article
Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3299, doi. 10.1093/hmg/ddac109
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- Article
Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3281, doi. 10.1093/hmg/ddac107
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- Article
Tracing genetic connections of ancient Hungarians to the 6th–14th century populations of the Volga-Ural region.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3266, doi. 10.1093/hmg/ddac106
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- Article
Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3—implications for Joubert syndrome.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3245, doi. 10.1093/hmg/ddac095
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- Article
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3231, doi. 10.1093/hmg/ddac053
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- Article
epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3216, doi. 10.1093/hmg/ddab338
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- Article
Impact of fetal expression quantitative trait loci on transcriptome-wide association study of childhood leukemia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3207, doi. 10.1093/hmg/ddab336
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- Publication type:
- Article
First mitochondrial genome-wide association study with metabolomics.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3367, doi. 10.1093/hmg/ddab312
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- Article