Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 430, doi. 10.1093/hmg/ddab050
- By:
- Publication type:
- Article
Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 6
Results: 8
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2
Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 467, doi. 10.1093/hmg/ddab061
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- Publication type:
- Article
3
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 454, doi. 10.1093/hmg/ddab058
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- Publication type:
- Article
4
Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 443, doi. 10.1093/hmg/ddab057
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- Publication type:
- Article
5
SOX9 modulates cancer biomarker and cilia genes in pancreatic cancer.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 485, doi. 10.1093/hmg/ddab064
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- Publication type:
- Article
6
Polygenic risk score for alcohol drinking behavior improves prediction of inflammatory bowel disease risk.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 514, doi. 10.1093/hmg/ddab045
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- Publication type:
- Article
7
Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 411, doi. 10.1093/hmg/ddab041
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- Publication type:
- Article
8
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 6, p. 500, doi. 10.1093/hmg/ddab002
- By:
- Publication type:
- Article