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Retrospective study revealed integration of CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities.
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- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1387724
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A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.676832
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- Article
Pedigree analysis of two brothers with severe oligozoospermia caused by maternal inv(X) (p22.3, q22) chromosome abnormality.
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- Andrologia, 2020, v. 52, n. 6, p. 1, doi. 10.1111/and.13602
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- Article