207 results on '"Cao, Kajia"'
Search Results
2. Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
3. Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield
4. Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma
5. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
6. Correction: Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data
7. Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach
8. P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease
9. Correction: Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data
10. P588: Identification of NF1-associated tumor mutations in plasma cfDNA and its clinical application
11. Additional file 1 of Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data
12. Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants
13. Clinical utility of custom-designed NGS panel testing in pediatric tumors
14. Famitinib in combination with concurrent chemoradiotherapy in patients with locoregionally advanced nasopharyngeal carcinoma: a phase 1, open-label, dose-escalation Study
15. 134. Novel fusions in aggressive infant sarcomas: Expanding the scope of 'CIC-rearranged' sarcoma without CIC rearrangement
16. Best Practice for Clinical Somatic Variant Interpretation and Reporting
17. Inactivation of Yeast Isw2 Chromatin Remodeling Enzyme Mimics Longevity Effect of Calorie Restriction via Induction of Genotoxic Stress Response
18. Belief Combination for Uncertainty Reduction in Microarray Gene Expression Pattern Analysis
19. Development and validation of an endoscopic images-based deep learning model for detection with nasopharyngeal malignancies
20. Abstract 5268: The spectrum of FGFR mutations in pediatric and young adult solid tumor
21. CancerVar: An artificial intelligence–empowered platform for clinical interpretation of somatic mutations in cancer
22. Potent obatoclax cytotoxicity and activation of triple death mode killing across infant acute lymphoblastic leukemia
23. Cellular, synaptic, and biochemical features of resilient cognition in Alzheimer's disease
24. A Novel TP53 Tandem Duplication in a Child with Li-Fraumeni Syndrome
25. eP288: Genomic characterization of a TP53 tandem duplication in a pediatric patient with Li-Fraumeni syndrome
26. eP313: Too few or too many? Variant reporting burden and diagnostic comparisons of an extensive gene panel with exome-sequencing in immunodeficiency
27. Molecular Diagnostic Outcomes from 700 Cases
28. Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
29. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
30. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders
31. Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma
32. Genomic characterization of 747 pediatric hematological malignancies
33. Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia–related malignancies
34. The microRNA miR-34 modulates ageing and neurodegeneration in Drosophila
35. CancerVar: an Artificial Intelligence empowered platform for clinical interpretation of somatic mutations in cancer
36. A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma
37. 64. Characterization of BCOR ITD in pediatric solid tumors using targeted NGS panel and whole transcriptome sequencing
38. 29. When amplification meets gene fusion: Molecular characterization of PPP1CB-ALK fusion and amplification in pediatric HGG
39. Clinical significance of serial tumor next generation sequencing (NGS) in 155 pediatric cancer patients.
40. Belief Combination for Uncertainty Reduction in Microarray Gene Expression Pattern Analysis
41. Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing
42. Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential
43. Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven Approach
44. Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers
45. Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy
46. 26. Uncovering the genetic etiology of inherited bone marrow failure syndromes using a custom-designed NGS panel
47. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses
48. AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss
49. 22. Clinical utility of integrated genomic profiling in pediatric brain tumor
50. A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
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