Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 1
Results: 12
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 65, doi. 10.1093/hmg/ddab015
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- Article
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 72, doi. 10.1093/hmg/ddab014
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- Article
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 21, doi. 10.1093/hmg/ddab013
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- Article
Downregulation of long non-protein coding RNA MVIH impairs glioblastoma cell proliferation and invasion through an miR-302a-dependent mechanism.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 46, doi. 10.1093/hmg/ddab009
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- Article
Glutathione S-transferase Pi (Gstp) proteins regulate neuritogenesis in the developing cerebral cortex.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 30, doi. 10.1093/hmg/ddab003
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- Article
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 87, doi. 10.1093/hmg/ddaa284
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- Article
Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 5, doi. 10.1093/hmg/ddaa281
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- Article
Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 119, doi. 10.1093/hmg/ddaa280
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- Article
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 78, doi. 10.1093/hmg/ddaa273
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- Article
EDITORIAL: 'An Improbable Fifteen Years as Executive Editor'.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 1, doi. 10.1093/hmg/ddaa266
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- Article
On the shoulders of giants.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 3, doi. 10.1093/hmg/ddaa265
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- Article
miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy.
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- Human Molecular Genetics, 2021, v. 30, n. 1, p. 103, doi. 10.1093/hmg/ddaa252
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- Article