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A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00491-7
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- Article
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 12, p. 1539, doi. 10.1515/jpem-2020-0336
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- Article
PWWP2B promotes DNA end resection and homologous recombination.
- Published in:
- EMBO Reports, 2022, v. 23, n. 7, p. 1, doi. 10.15252/embr.202153492
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- Article
Comprehensive multiomics analysis reveals distinct differences between pediatric choroid plexus papilloma and carcinoma.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01814-y
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- Article