COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2913, doi. 10.1093/hmg/ddad117
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- Publication type:
- Article
Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 19
Results: 6
1
2
A novel antisense lncRNA, ARBAG harboring an RNA destabilizing GWAS variant for C-peptide dictates the transcript isoforms of GABRA6 in cerebellum.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2929, doi. 10.1093/hmg/ddad119
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- Publication type:
- Article
3
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2901, doi. 10.1093/hmg/ddad114
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- Publication type:
- Article
4
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2887, doi. 10.1093/hmg/ddad112
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- Publication type:
- Article
5
Multi-omic analysis of mandibuloacral dysplasia type A patient iPSC-derived MSC senescence reveals miR-311 as a novel biomarker for MSC senescence.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2872, doi. 10.1093/hmg/ddad111
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- Publication type:
- Article
6
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2857, doi. 10.1093/hmg/ddad104
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- Publication type:
- Article