Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
- Published in:
- Human Genetics, 2023, v. 142, n. 9, p. 1417, doi. 10.1007/s00439-023-02589-3
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- Publication type:
- Article
Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 9
Results: 8
1
2
Genomics and inclusion of Indigenous peoples in high income countries.
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- Human Genetics, 2023, v. 142, n. 9, p. 1407, doi. 10.1007/s00439-023-02587-5
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- Publication type:
- Article
3
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants.
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- Human Genetics, 2023, v. 142, n. 9, p. 1395, doi. 10.1007/s00439-023-02586-6
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- Article
4
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology.
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- Human Genetics, 2023, v. 142, n. 9, p. 1361, doi. 10.1007/s00439-023-02584-8
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- Publication type:
- Article
5
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects.
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- Human Genetics, 2023, v. 142, n. 9, p. 1375, doi. 10.1007/s00439-023-02583-9
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- Publication type:
- Article
6
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk.
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- Human Genetics, 2023, v. 142, n. 9, p. 1345, doi. 10.1007/s00439-023-02582-w
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- Article
7
Population history modulates the fitness effects of Copy Number Variation in the Roma.
- Published in:
- Human Genetics, 2023, v. 142, n. 9, p. 1327, doi. 10.1007/s00439-023-02579-5
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- Publication type:
- Article
8
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
- Published in:
- Human Genetics, 2023, v. 142, n. 9, p. 1385, doi. 10.1007/s00439-023-02578-6
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- Publication type:
- Article