Works matching AU Chen, Yu'e
Results: 13
Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2365
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- Article
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome.
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- 2023
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- Case Study
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2121
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- Article
Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52831-9
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- Article
Application of static progressive stretch in perioperative rehabilitation nursing of patients with unicompart-mental knee arthroplasty.
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- Chinese Journal of Nursing, 2024, v. 59, n. 12, p. 1462, doi. 10.3761/j.issn.0254-1769.2024.12.008
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- Article
Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
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- Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2024.1503455
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- Article
Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02063-7
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- Article
Catalytic Degradation of Triphenylmethane Dyes with an Iron Porphyrin Complex as a Cytochrome P450 Model.
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- Molecules, 2023, v. 28, n. 14, p. 5401, doi. 10.3390/molecules28145401
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- Article
Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.
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- 2024
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- Publication type:
- Case Study
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.964098
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- Article
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.924573
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- Article
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829613
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- Article
Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway.
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- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11297-3
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- Article