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Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
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
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
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
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
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 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
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
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.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00130
- By:
- Publication type:
- Article