35 results on '"Wang, Yuanbai"'
Search Results
2. Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare [alpha]- and [beta]-Globin Gene Variants in Thalassemia Alleles in the Chinese Population
3. 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
4. Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population
5. Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array
6. Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China
7. A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication
8. 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
9. Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report
10. 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
11. Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication
12. Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population
13. 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.
14. 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
15. Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing
16. Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study
17. The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
18. Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China
19. Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families
20. Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China
21. Molecular analysis of a large novel deletion causing α+-thalassemia
22. A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report
23. Molecular analysis of a large novel deletion causing α+-thalassemia.
24. [Prenatal diagnosis and genetic analysis of a rare case with 8p deletion and duplication].
25. [Clinical and genetic analysis of a patient with 10q26.3 microdeletion in conjunct with 18q22.3q23 microduplication].
26. [Genetic analysis of a case with a supernumerary marker derived from chromosome 9].
27. [Application of chromosomal microarray analysis in the diagnosis of genetic etiology of spontaneous abortions].
28. [The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages].
29. [A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].
30. [Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome].
31. [Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
32. Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China.
33. [Clinical and genetic study of a child with 15q11.2 microduplication].
34. Molecular analysis of a large novel deletion causing α + -thalassemia.
35. [Analysis a family with partial Xq deletion].
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