Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 4
Results: 15
Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 708, doi. 10.1093/hmg/ddac310
- Publication type:
- Article
FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 696, doi. 10.1093/hmg/ddac258
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- Article
Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn's disease and ulcerative colitis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 677, doi. 10.1093/hmg/ddac241
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- Publication type:
- Article
Blood transcriptomic biomarkers of alcohol consumption and cardiovascular disease risk factors: the Framingham Heart Study.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 649, doi. 10.1093/hmg/ddac237
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- Publication type:
- Article
Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 659, doi. 10.1093/hmg/ddac236
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- Publication type:
- Article
Site-specific decreases in DNA methylation in replicating cells following exposure to oxidative stress.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 632, doi. 10.1093/hmg/ddac232
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- Publication type:
- Article
Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 621, doi. 10.1093/hmg/ddac231
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- Publication type:
- Article
Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson's disease genes.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 685, doi. 10.1093/hmg/ddac230
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- Publication type:
- Article
Non-coding RNAs associated with Prader–Willi syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 608, doi. 10.1093/hmg/ddac228
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- Publication type:
- Article
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227
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- Publication type:
- Article
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 580, doi. 10.1093/hmg/ddac225
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- Publication type:
- Article
Combinatorial treatment with exercise and AICAR potentiates the rescue of myotonic dystrophy type 1 mouse muscles in a sex-specific manner.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 551, doi. 10.1093/hmg/ddac222
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- Publication type:
- Article
Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 543, doi. 10.1093/hmg/ddac221
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- Publication type:
- Article
Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 567, doi. 10.1093/hmg/ddac218
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- Publication type:
- Article
Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 533, doi. 10.1093/hmg/ddac216
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- Publication type:
- Article