Found: 8
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36606-w
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- Publication type:
- Article
The developing mouse coronal suture at single-cell resolution.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24917-9
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- Publication type:
- Article
The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.
- Published in:
- 2019
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- Publication type:
- journal article
de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 15, p. 2501, doi. 10.1093/hmg/ddz072
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- Publication type:
- Article
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1360, doi. 10.1002/humu.23598
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- Publication type:
- Article
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1360, doi. 10.1002/humu.23281
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- Publication type:
- Article
amplimap: a versatile tool to process and analyze targeted NGS data.
- Published in:
- Bioinformatics, 2020, v. 36, n. 8, p. 2643, doi. 10.1093/bioinformatics/btz905
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- Publication type:
- Article
amplimap: a versatile tool to process and analyze targeted NGS data.
- Published in:
- Bioinformatics, 2019, v. 35, n. 24, p. 5349, doi. 10.1093/bioinformatics/btz582
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- Publication type:
- Article