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Keyword [targeted next-generation sequencing]
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1. Application Of Targeted Next-Generation Sequencing To The Genetic Testing For Neonatal Diabetes Mellitus As Well As Atypical Type1Diabetes
2. Genetic Etiology Study Of 68 Short Stature Patients By Targeted Next-generation Sequencing
3. Results Analysis Of Targeted Next Generation Sequencing In Patients With Unknown Intellectual/Developmental Disabilities
4. The Clinical Features And Pathogenesis Of Hypoparathyroidism
5. Identification Of Pathogenic Mutations In Hereditary Retinal Dystrophies Using Targeted Next-Generation Sequencing
6. Gene Mutation Analysis Of Targeted Next Generation Sequencing In Patients With Unexplained Childhood Absence Epilepsy
7. The Pedigree Analysis Of A Typical Lynch Syndrome Family
8. Identification Of PKD2 Gene Mutation In Human Preimplantation Embryos In Vitro Using Targeted Next-generation Sequencing Combined With Targeted Haplotyping
9. Diagnosis Of Hereditary Spastic Paraplegia In China Using Targeted Next-generation Sequencing And Gene Functional Analysis
10. Genetic And Clinical Features Of Patients With Rare Hereditary Ataxia
11. Targeted Gene Panel Sequencing In Chinese Children With Sporadic Non-syndromic Congenital Heart Disease And Primary Cardiomyopathy
12. Identification Of Neoantigens For Personalized Cancer Immunotherapy In Advanced Refractory Solid Tumor Patients
13. The Distribution Characteristics And Screening For Novel Mutations Of Autosomal Dominant Cerebellar Ataxia In China
14. Study On Genetic Variation And Correlation Between Genotype And Phenotype Of Spastic Paraplegia
15. Comparison Of The Applied Value Of PCR-SSCP And Targeted Next-generation Sequencing In Diagnosis Of TSC-RAML
16. Identification Of Gene Mutations For Patients Of 46,XY Disorders Of Sex Development And In Vitro Functional Studies Of NR5A1 Gene Rare Variants
17. Genetic Investigation And Clinical Features Of Autosomal Dominant Hereditary Spastic Paraplegia In China
18. Genetic Spectrum And Clinical Features In Patients With Recessive Hereditary Spastic Paraplegia
19. Mutation Analyses Of Charcot-marie-tooth Disease And Functional Study Of GDAP1
20. A Rapid NGS Strategy For Molecular Diagnosis And The Determination Of Unknown Pathogenic Genes Of Primary Spontaneous Pneumothorax
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