Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 16
Results: 28
Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2788, doi. 10.1093/hmg/ddaa184
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Fto-modulated lipid niche regulates adult neurogenesis through modulating adenosine metabolism.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2775, doi. 10.1093/hmg/ddaa171
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Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2746, doi. 10.1093/hmg/ddaa164
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Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2647, doi. 10.1093/hmg/ddaa140
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Chronic lymphocytic leukemia (CLL) risk is mediated by multiple enhancer variants within CLL risk loci.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2761, doi. 10.1093/hmg/ddaa165
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Metabolic stress regulates genome-wide transcription in a PTEN-dependent manner.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2736, doi. 10.1093/hmg/ddaa168
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Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2729, doi. 10.1093/hmg/ddaa163
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Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2698, doi. 10.1093/hmg/ddaa153
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ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2708, doi. 10.1093/hmg/ddaa160
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Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2684, doi. 10.1093/hmg/ddaa159
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Fine-scale population structure in the UK Biobank: implications for genome-wide association studies.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2803, doi. 10.1093/hmg/ddaa157
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Retrovirus reactivation in CHMP2B<sup>Intron5</sup> models of frontotemporal dementia.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2637, doi. 10.1093/hmg/ddaa142
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Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2674, doi. 10.1093/hmg/ddaa146
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Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2662, doi. 10.1093/hmg/ddaa145
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Implicit bias of encoded variables: frameworks for addressing structured bias in EHR–GWAS data.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R33, doi. 10.1093/hmg/ddaa192
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The phenomenal epigenome in neurodevelopmental disorders.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R42, doi. 10.1093/hmg/ddaa175
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Regulation, diversity and function of MECP2 exon and 3′UTR isoforms.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R89, doi. 10.1093/hmg/ddaa154
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Genetics of early growth traits.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R66, doi. 10.1093/hmg/ddaa149
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Fine-mapping genetic associations.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R81, doi. 10.1093/hmg/ddaa148
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Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R27, doi. 10.1093/hmg/ddaa144
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Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R107, doi. 10.1093/hmg/ddaa133
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Understanding human gut diseases at single-cell resolution.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R51, doi. 10.1093/hmg/ddaa130
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Genomics at cellular resolution: insights into cognitive disorders and their evolution.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R1, doi. 10.1093/hmg/ddaa117
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Reviewing the genetics of heterogeneity in depression: operationalizations, manifestations and etiologies.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R10, doi. 10.1093/hmg/ddaa115
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Dissecting genome-wide studies for microbiome-related metabolic diseases.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R73, doi. 10.1093/hmg/ddaa105
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Functional genomics in autoimmune diseases.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R59, doi. 10.1093/hmg/ddaa097
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Androgen receptor variants: RNA-based mechanisms and therapeutic targets.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R19, doi. 10.1093/hmg/ddaa089
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Genome editing strategies for fetal hemoglobin induction in beta-hemoglobinopathies.
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- Human Molecular Genetics, 2020, v. 29, n. 16, p. R100, doi. 10.1093/hmg/ddaa088
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