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Keyword [New mutation]
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1. The Correlation Between Epigenetic Regulation Of Hypertension And Target Organ Damage Stroke And The New Mutation Of FBN1 Gene Lead To Cardiovascular Phenotype Of Marfan Syndrome
2. The Role And Mechanism Of New Mutation Of AMPK Gamma 2 Subunit In PRKAG2 Cardiac Syndrome
3. New Mutation Of Tissue Non Specific Alkaline Phosphatase In Childhood Hypophosphatasia
4. Test The Function Of HERG New Mutation Q738X
5. Chinese Hans Marfan Syndrome Clinical Phenotye And Skeleral System Data And 5 New Mutation Gene Types
6. Study On The Clinical Characteristics Of Childhood Hemophagocytic Lymphohistiocytosis And The Pathogenesis Of A New Mutation
7. The New Mutation Of CYP21A2 Gene And Congenital Adrenal Hyperplasia:A Case Report
8. A Preliminary Study On The Correlation Between AME And Novel Biomarkers Caused By HSD11B2 New Mutation Site And DKD Progression In Type 2 Diabetes
9. Study On Gene Mutation Of Waardenburg Syndrome And Etiology And Pathogenesis Of Traditional Chinese Medicine
10. A New Mutation Of SLC19A2 In A Zhuang Ethnic Family With Thiamine-responsive Megaloblastic Anemia
11. A Family Report Of Andersen-Tawil Syndrome Was Induced By A New Mutation In The KCNJ2 Gene And Previous Literature Review Analysis
12. A New Mutation Of PSEN1 Gene Loci In Pedigree Analysis Of Clinical Features Of Alzheimer's Disease
13. Identification And Analysis A New Mutation Of The SLC26A4 Gene In A Family Of Large Vestibular Aqueduct Syndrome
14. Papillon-lefèvre Syndrome:CTSC New Mutation Site Report And Literature Review
15. Identification Of A Disease-causing Gene In STGD Family And Its Potential Role In Corneal Dystrophy
16. A Study Of Alport Syndrome Family In Western China And Its New Mutation In COL4A5 Gene
17. Genetic Characteristics And Clinical Manifestations Of A New Mutation Of The MYH9 Gene In A Family
18. Study On The Mechanism Of TSGA10 New Mutation Leading To Human Acephalic Spermatozoa
19. Clinical Characteristics Of A Family With Tuberous Sclerosis And Discovery Of New Mutation Sites Of TSC2 Gene
20. Phenotypic Analysis And Possible Mechanism Of A New Mutation In The COL1A1 Gene In A Family With Osteogenesis Imperfecta
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