Found: 18
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Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.
- Published in:
- BMC Pregnancy & Childbirth, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12884-021-03589-9
- By:
- Publication type:
- Article
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.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2121
- By:
- Publication type:
- Article
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.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00608-y
- By:
- Publication type:
- Article
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00599-w
- By:
- Publication type:
- Article
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00568-9
- By:
- Publication type:
- Article
A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0461-1
- By:
- Publication type:
- Article
Molecular analysis of a large novel deletion causing α<sup>+</sup>-thalassemia.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0797-8
- By:
- Publication type:
- Article
Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.
- Published in:
- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06818-z
- By:
- Publication type:
- Article
Prenatal diagnosis of fetuses with absent/hypoplastic nasal bone in second‐trimester using chromosomal microarray analysis.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 5, p. 1, doi. 10.1002/bdr2.2351
- By:
- Publication type:
- Article
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.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01433-x
- By:
- Publication type:
- Article
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.964098
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- Publication type:
- Article
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.924573
- By:
- Publication type:
- Article
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829613
- By:
- Publication type:
- Article
Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/2766625
- By:
- Publication type:
- Article
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2023, v. 147, n. 2, p. 208, doi. 10.5858/arpa.2021-0510-OA
- By:
- Publication type:
- Article
Identification of the Active Constituents and Significant Pathways of Shen-qi-Yi-zhu Decoction on Antigastric Cancer: A Network Pharmacology Research and Experimental Validation.
- Published in:
- Evidence-based Complementary & Alternative Medicine (eCAM), 2021, p. 1, doi. 10.1155/2021/6642171
- By:
- Publication type:
- Article