Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 18
Results: 14
Correction to: Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3206, doi. 10.1093/hmg/ddac183
- Publication type:
- Article
Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3181, doi. 10.1093/hmg/ddac112
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- Article
RTL1/PEG11 imprinted in human and mouse brain mediates anxiety-like and social behaviors and regulates neuronal excitability in the locus coeruleus.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3161, doi. 10.1093/hmg/ddac110
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- Article
Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3144, doi. 10.1093/hmg/ddac108
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- Publication type:
- Article
Developmental disruption to the cortical transcriptome and synaptosome in a model of SETD1A loss-of-function.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3095, doi. 10.1093/hmg/ddac105
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- Publication type:
- Article
Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3133, doi. 10.1093/hmg/ddac102
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- Publication type:
- Article
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3120, doi. 10.1093/hmg/ddac100
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- Article
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3083, doi. 10.1093/hmg/ddac098
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- Publication type:
- Article
Motor unit recovery following Smn restoration in mouse models of spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3107, doi. 10.1093/hmg/ddac097
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- Publication type:
- Article
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.
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- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3068, doi. 10.1093/hmg/ddac096
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- Article
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3032, doi. 10.1093/hmg/ddac091
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- Publication type:
- Article
Integrative multi-omics database (iMOMdb) of Asian pregnant women.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3051, doi. 10.1093/hmg/ddac079
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- Publication type:
- Article
Genetic risk factors and COVID-19 severity in Brazil: results from BRACOVID study.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3021, doi. 10.1093/hmg/ddac045
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- Publication type:
- Article
Novel diabetes gene discovery through comprehensive characterization and integrative analysis of longitudinal gene expression changes.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3191, doi. 10.1093/hmg/ddac039
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- Article