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Keyword [pathogenic mutations]
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1. Head And Neck Paraganglioma Patients With Succinate Dehydrogenase Gene Pathogenic Mutations
2. Objective To Investigate The Pathogenic Mutations Of The Osteogenic System In The Osteogenic System
3. The Study Of Organic Aciduria Clinical And Pathogenic Mutations In Children
4. Functional Analysis Of Pendrin (SLC26A4) And Its Pathogenic Mutations In Cos-7Cells
5. Analysis Of The Pathogenic Mutations Of Gene In Five Familial Adenomatous Polyposis Pedigree In Yunnan Province
6. Study On The Molecular Mechanism Of The Inhibition Of DHCR24 Inhibitor And Gene Point Pathogenic Mutations Using Molecular Simulation Method
7. Identification Of Pathogenic Mutations In Hereditary Retinal Dystrophies Using Targeted Next-Generation Sequencing
8. Clinical Characteristics And Pathogenic Mutations Of A Family Of Tuberous Sclerosis
9. The Research Of BRCA1 And BRCA2 Pathogenic Mutations Of The 140 Chinese Breast Cancer Patients With Genetic High-risk
10. Identification Of Disease-Causing Mutations Of Thoracic Aorta Dissection And Abdominal Aorta Aneurysm By Whole Exome Sequencing
11. Identification Of TMC1 Pathogenic Mutations In Chinese Families With Hereditary Hearing Loss
12. Study Of Pathogenic Mutations In Families With Congenital Cataract
13. Study On The Molecular Mechanism Of Metabolic Disorders Induced By Pathogenic Mutations In LPL Using A Knock-in Mouse Model
14. Screening,Identification Of Pathogenic Mutations And Karyotype Analysis Of Premature Ovarian Insufficiency
15. Identification Of Pathogenic Mutations In Candidate Genes In Chinese Han Patients With Unilateral Renal Agenesis
16. Preliminary Study Of New Pathogenic Mutations In Schimke Immuno-osseous Dysplasia
17. Dysfunctional Mutation Of KIF15 And MLH1 On Chromosome 3p Confers High Risk For Familial Colon Cancer
18. Screening Of Pathogenic Mutations In Familial Hypertrophic Cardiomyopathy By Whole-exome Sequencing
19. Study On The Pathogenic Mutations Of Two Single-gene Inherited Diseases Of The Locomotion System
20. Identification Of Pathogenic Mutations In Two Rare Diseases And Investigation Into The Pathogenesis Of TSC
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