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Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0479-0
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- Article
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y<sup>POS</sup> mouse model.
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- Biology of Sex Differences, 2018, v. 9, p. 1, doi. 10.1186/s13293-018-0167-9
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- Article
Optical genome mapping identifies a novel pediatric embryonal tumor with a ZNF532::NUTM1 fusion.
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- Journal of Pathology, 2023, v. 260, n. 3, p. 329, doi. 10.1002/path.6085
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- Publication type:
- Article
Genome-wide neonatal epigenetic changes associated with maternal exposure to the COVID-19 pandemic.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01707-4
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- Article