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Keyword [mutation screening]
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1. The Role Of HMLH3 In Familial Colorectal Cancer And Esophageal Cancer
2. Mutation Screening Of ADPKD Related Gene Pkd1 3~1 Region On Human Chromosome 16p13.3
3. Identification Of A Novel β Thalassemia Mutation And Development Of A Method For High-throughput Mutation Detection Of β-globin Gene
4. Mutation Screening And Whole Spectrum Mutation Map Drawing Of GJB2 Gene Among Non-syndromic Hearing Impairment Patients
5. The Clinical Features And Mutation Analysis Of The Responsible Genes For The Syndromic Hearing Impairment
6. Clinical And Molecular Genetic Study Of A Familiy With Familial Partial Epilepsy
7. Clinical And Molecular Genetic Study Of Idiopathic Nocturnal Frontal Lobe Epilepsy
8. Association Analysis Of The Parkin Gene And Mutation Screening In Sporadic Parkinson's Disease Patients And Family Parkinsonism Patients
9. Detection Of Interaction Between Wild Type ADAR1 Protein And Its R916W Mutant Using Yeast And Mammalian Two Hybrid Systems And Gene Locus And Mutation Screening In Marie Unna Hereditary Hypotrichosis
10. RP33, A Novel Locus Of Autosomal Dominant Retinitis Pigmentosa; And A Complete Mutation Screening Of PRPF31 Gene In RP11 Linked Family
11. (LAM) Gene Mutation Screening And Plasma Free DNA Detection And Nodular Sclerosis (TSC) Lung Performance Summary And Analysis
12. 1. Linkage Analysis And Mutation Screening In Triphalangeal Thumb-Associated Limb Malformations 2. Generation Of Fgfr3+/P244R Mouse Chimera And Phenotype Analysis Of Fgfr2+/P253R Mouse Model
13. Mutation Screening Of FBN1 In Patients With Ectopia Lentis And Marfanoid Habitus And Related Gene Chip Designing And Verification
14. Susceptibility Genes Orientation And Mutation Screening Of The Preliminary Study In A Rare Multi-cancer Pedigree
15. The Gene Mutation Screening Of Three X-linked Recessive Retinitis Pigmentosa Families
16. Molecular Studies Of Familial Vesicoureteral Reflux
17. Study On Mutation Screening In A Family With Congenital Cataract And Its Underlying Molecular Mechanism
18. The Isolation Of Promoter Regions Of The Parkinson Disease Causitive Gene LRRK2, And Mutation Screening Of The CSP-α, Nrdp1, USP24 Gene In Parkinson Disease Patients
19. Screening For LRRK2 Interactants By Yeast 2-hybrid Analysis And Association Study In The Promoter Region Of LRRK2 And UCH-L1 With Parkinson's Disease
20. Mutation Screening And Functional Analysis On The Molecular Pathogenesis Of Non-syndromic Tooth Agenesis
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