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Keyword [microduplication]
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1. Establishment And Application Of Genetic Diagnostic System For Eight Chromosome Microdeletion Syndromes By Fluorescence In Situ Hybridization
2. Whole Genome CNV Analysis Of Autism And Study On A Case With 15q11.2-q13 Microduplication
3. Mutation Analysis Of Inherited Hair Disorders
4. The Application Of Array-based Comparative Genomic Hybridization In Birth Defects
5. Application Of Chromosome Microarray Investigated Fetuses With Common Urinary Abnormalities
6. Molecular Genetic Diagnosis For Fetus With Congenital Heart Disease
7. The Application Research Of NIPT For Fetal Chromosomal Abnormalities And Functional Analysis Of GUCY2D Gene Mutations
8. Establishment And Application Of Chromosomal Copy Number Variations Detection Based On High-throughput Sequencing
9. Application Study Of SNP Microarray In Spontaneous Abortion And Fetal Nervous System Abnormality
10. Application Of Microdeletion And Microduplication Syndromes Detection Based On Next Generation Sequencing In The Prenatel Diagnosis
11. Identification Of The Causative Mutation Of A Family With Congenital Brachydactyly Type A2
12. Application Of Chromosomal Microarray Analysis In Early Spontaneous Abortion
13. Chromosome Microarray Analysis Combined With Karyotype Analysis In Prenatal Diagnosis Of Fetuses With Increased NT
14. Research On The Application Of Copy Number Variation Sequencing In Prenatal Diagnosis
15. Application Of NIPT And Invasive Prenatal Diagnosis In Pregnant Women Of Different Ages
16. Performance Of Non-invasive Prenatal Testing For Foetal Chromosomal Abnormalities In 1048 Twin Pregnancies
17. Application Of Chromosome Microarray Analysis In The Diagnosis Of Children With Unexplained Intellectual Disability/developmental Delay
18. Application Of Reference Materials In Detection Of Encephalitis-related RNA Viruses And Non-invasive Prenatal Testing Of Fetal Microdeletions And Microduplications Syndrome
19. Genetic Etiology Analysis Of Fetal Congenital Heart Disease
20. The Study On Clinical Phenotype And Variant Properties Of 16p13.11 Microduplication Encompassing The NDE1 Gene In Prenatal Diagnosis
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