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Keyword [disease-causing gene]
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1. Disease-causing Gene Identification Of Human Juvenile Macular Dystrophy
2. Establishment Of Immortal Lymphoblastoid Cell Lines Of The Goldenhar Syndrome Cases And Preliminary Study Of Disease-causing Gene Of A Goldenhar Syndrome Pedigree
3. Disease-causing Gene Mapping And Candidate Gene Analysis Of Single Gene Disorders
4. The Study Of Disease-Causing Genes Of Autosomal Dominant Congenital Cataract
5. Analysis Of PRRT2Gene Mutation And Genotype-phenotype Correlation In A Cohort Of Paroxysmal Kinesigenic Dyskinesia Cases And Using Exome Sequencing To Indentified The Disease-causing Gene Of Gordon Holmes Syndrome
6. Mutations Screening For Peutz-Jeghers Syndrome And Marfan Syndrome
7. Research On Disease-causing Gene Mutations In Chinese Patients With Hypertrophic Cardiomyopathy
8. Research On The Disease-causing Gene In A Hereditary Dentin Dysplasia Type Ⅰ Family
9. Investigation On The Disease-causing Gene And Molecular Mechanism For A Hereditary Dentin Dysplasia Type Ⅰ Family
10. The Negative Regulatory Mechanism Study Of ISG15 On Autoinflammatory Disease
11. Using The MiRNA To Discover Genes Associated With Disease
12. Analysis Of Mutations Of Disease-causing Gene In Sporadic Retinitis Pigmentosa Using Exon Trapping
13. Mapping And Cloning Of New Disease-causing Gene In A Autosomal Dominant Optic Disc Pits Family
14. Identification And Molecular Consequence Of A Disease Causing Gene In An Autosomal Dominant Congenital Cataract Family
15. Diagnosis And Treatment Of Hypertrophic Osteoarthropathy And Mendelian Randomization Study Between 25OHD And Bone Metabolism
16. Screening And Identification Of Disease-Causing Gene In A Mental Retardation Family
17. Identification Of A Disease-causing Gene In STGD Family And Its Potential Role In Corneal Dystrophy
18. Study Of Novel Disease-causing Gene And Molecular Mechanisms For Charcot-marie-tooth Disease
19. Disease-causing Gene Screening And Reproductive Intervention For Duchenne Muscular Dystrophy
20. Mapping a new autosomal dominant hearing loss locus, DFNA20, on 17q25 and searching for the disease causing gene(s)
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