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10 results on '"Chen, Chunnuan"'

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1. 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.

2. Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review.

3. Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.

4. Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.

5. Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.

6. Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.

7. Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death.

8. Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing.

9. Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.

10. Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China.

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