38 results on '"Zeng, Shuhong"'
Search Results
2. A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
3. Parthenolide as a potential therapeutic agent for gastric cancer: Exploring oxidative stress and DNA damage
4. Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare [alpha]- and [beta]-Globin Gene Variants in Thalassemia Alleles in the Chinese Population
5. A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant
6. Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview
7. Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
8. Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis.
9. Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family
10. Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array
11. Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
12. A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication
13. Uncertainty quantification in operational modal analysis of time-varying structures based on time-dependent autoregressive moving average model
14. 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
15. Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report
16. Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication
17. A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant
18. Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population
19. Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing
20. Additional file 1 of Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview
21. 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.
22. Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing
23. Bioinformatic Analyses and Experimental Verification Reveal that High FSTL3 Expression Promotes EMT via Fibronectin-1/α5β1 Interaction in Colorectal Cancer
24. Identification of the Active Constituents and Significant Pathways of Shen-qi-Yi-zhu Decoction on Antigastric Cancer: A Network Pharmacology Research and Experimental Validation
25. The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis
26. The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
27. Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families
28. Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China
29. Molecular analysis of a large novel deletion causing α+-thalassemia
30. Molecular analysis of a large novel deletion causing α+-thalassemia.
31. [Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication].
32. [Clinical and genetic analysis of a patient with 10q26.3 microdeletion in conjunct with 18q22.3q23 microduplication].
33. [Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions].
34. [Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
35. Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China.
36. [Clinical and genetic study of a child with 15q11.2 microduplication].
37. Molecular analysis of a large novel deletion causing α + -thalassemia.
38. [Analysis a family with partial Xq deletion].
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