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Keyword [genetic disease]
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21. Using Exon Traipping Technology To Evaluate The Effect On Splicing Of BRCA1 Variants And The Aunlication Of Whole-exome Sequcencing In The Differential Diagnosis Of Genetic Diseases Klippel-Trenaunay Syndrome And Parkes-Weber Syndrome
22. Use Reprogramming Technology To Establish IPS Cell Disease Model Of Mitochondrial Genetic Disease MERRF
23. Genetic Interactions and Complex Human Disease
24. Heterogeneity of the phenotypic definition of coronary artery disease and its impact on genetic association studies
25. The burden of genetic disease among hospitalized children in Newfoundland
26. Functional evaluation of non-coding conserved sequences at RET and their pathological relevance to human genetic disease
27. In vitro and in situ properties of canine neural precursor cells with respect to transplantation potential
28. A Protein Domain-Centric View of Human Genetic Disease
29. Building Risk Prediction Model for Complex Genetic Disease Using High Dimensional Genetic Data
30. Genetic dissection of murine lupus susceptibility locus SLE1C identifies estrogen-related receptor gamma as a novel regulator of autoimmunity
31. Posttraumatic growth in Huntington disease: Measuring the effects of genetic testing and disease on positive psychological change
32. Genetic factors in coronary artery disease in women
33. Genetic investigation of complex disease
34. Analysis of linkage disequilibrium and haplotype at the single -minded homology 2 locus in four populations, as a model for analysis of candidate loci in complex genetic disease
35. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome
36. Expression of human polypeptide hormones in transgenic and transkaryotic mice: Implications for the treatment of human genetic disease
37. Network based analysis of genetic disease associations
38. Study On The Efficiency Of Screening For Carriers Of Single Gene Disease During Pregnancy/Pre-pregnancy
39. A Comprehensive Diagnosis Method Of Genetic Disease Based On NGS Data And Public Medical Databases
40. Clinical Investigation,Pathogenic Gene Detection And Multi-omics Analysis Of An Undiagnosed Rare Genetic Disease
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