934 results on '"Ki, Chang Seok"'
Search Results
2. Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene
3. Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia
4. An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data
5. Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA
6. Molecular classification of follicular thyroid carcinoma based on TERT promoter mutations
7. Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis
8. Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies
9. Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis
10. Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease
11. Age-associated mortality is partially mediated by TERT promoter mutation status in differentiated thyroid carcinoma
12. Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
13. Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
14. Proteolytically degradable PEG hydrogel matrix mimicking tumor immune microenvironment for 3D co-culture of lung adenocarcinoma cells and macrophages
15. Long-term natural history of non-cavitary nodular bronchiectatic nontuberculous mycobacterial pulmonary disease
16. Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome
17. Performance evaluation of the Cobas TaqMan MTB assay on respiratory specimens according to clinical application
18. Abstract 6697: Deep learning algorithm for cancer detection using multimodal characteristics of whole methylome sequencing of cf-DNA
19. Mycobacteriological characteristics and treatment outcomes in extrapulmonary Mycobacterium abscessus complex infections
20. Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment
21. PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer’s disease
22. Author Correction: Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease
23. Cav-1 (Caveolin-1) and Arterial Remodeling in Adult Moyamoya Disease
24. Structural Characteristics and Properties of Cocoon and Regenerated Silk Fibroin from Different Silkworm Strains
25. Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing
26. A case of Type A insulin resistance syndrome in a 14-year-old girl without common clinical features
27. Multi-biofunction of antimicrobial peptide-immobilized silk fibroin nanofiber membrane: Implications for wound healing
28. Novel fabrication of fluorescent silk utilized in biotechnological and medical applications
29. Evaluation of alpha-fetoprotein as a screening marker for hepatocellular carcinoma in hepatitis prevalent areas
30. Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment
31. Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease
32. Development and performance evaluation of an artificial intelligence algorithm using cell-free DNA fragment distance for non-invasive prenatal testing (aiD-NIPT)
33. Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis
34. Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants
35. LBODP092 Proposal Of Indication For Completion Thyroidectomy In Follicular Thyroid Carcinoma Using TERT Promoter Mutational Status
36. Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome
37. Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors
38. Thiol-ene hydrogels as desmoplasia-mimetic matrices for modeling pancreatic cancer cell growth, invasion, and drug resistance
39. Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope
40. Manipulating hepatocellular carcinoma cell fate in orthogonally cross-linked hydrogels
41. Prevalence of granular corneal dystrophy type 2-related TGFBI p.R124H variant in a South Korean population
42. Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
43. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1
44. De novo mutations in SOD1 are a cause of ALS
45. Abstract 6371: Deep learning algorithm for multi-cancer detection and classification using cf-WGS
46. Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects
47. The influence of matrix properties on growth and morphogenesis of human pancreatic ductal epithelial cells in 3D
48. First Korean female child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
49. Native-sized recombinant spider silk protein produced in metabolically engineered Escherichia coli results in a strong fiber
50. Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4Variants by Whole-Exome Sequencing
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