638 results on '"Choi, Murim"'
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2. Prion-like domain mediated phase separation of ARID1A promotes oncogenic potential of Ewing’s sarcoma
3. Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
4. Simple modeling of familial Alzheimer’s disease using human pluripotent stem cell-derived cerebral organoid technology
5. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
6. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
7. Overlooked KCNQ4 variants augment the risk of hearing loss
8. Distinct prefrontal projection activity and transcriptional state conversely orchestrate social competition and hierarchy
9. A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population
10. eLife assessment: Population clustering of structural brain aging and its association with brain development
11. eLife assessment: Uremic toxin indoxyl sulfate induces trained immunity via the AhR-dependent arachidonic acid pathway in end-stage renal disease (ESRD)
12. Melatonin alleviates myocardial dysfunction through inhibition of endothelial‐to‐mesenchymal transition via the NF‐κB pathway
13. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
14. The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
15. Fatal systemic disorder caused by biallelic variants in FARSA
16. Moderation of thyroid hormones for the relationship between amyloid and tau pathology.
17. Defining the phenotypic spectrum of SLC6A1 mutations
18. eLife assessment: Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity
19. Recurrent Fever of Unknown Origin and Unexplained Bacteremia in a Patient with a Novel 4.5 Mb Microdeletion in Xp11.23-p11.22
20. Increased inflammatory signature in myeloid cells of non-small cell lung cancer patients with high clonal hematopoiesis burden
21. Kidney residency of VISTA-positive macrophages accelerates repair from ischemic injury
22. eLife assessment: Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays
23. eLife assessment: Comparative Interactome Analysis of α-arrestin Families in Human and Drosophila
24. Distinct prefrontal projection activity and transcriptional state conversely orchestrate social competition and hierarchy
25. eLife assessment: Multimodal analysis of methylomics and fragmentomics in plasma cell-free DNA for multi-cancer early detection and localization
26. Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer
27. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
28. The mutation of BCOR is highly recurrent and oncogenic in mature T-cell lymphoma
29. Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome
30. A logical network-based drug-screening platform for Alzheimer’s disease representing pathological features of human brain organoids
31. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
32. Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds
33. Oncogenic effects of germline variants in lysosomal storage disease genes
34. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
35. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
36. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis
37. Mutations in DSTYK and Dominant Urinary Tract Malformations
38. De novo mutations in histone-modifying genes in congenital heart disease.
39. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
40. Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing
41. Familial cortical myoclonus with a mutation in NOL3.
42. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
43. Data from Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities
44. Supplementary Figures S1 - S11 from Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities
45. Supplementary Table S1 from Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities
46. Supplementary Methods, Table S2 from Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities
47. Supplementary Figure S1 Details from Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities
48. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition
49. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
50. Genomic analysis of synchronous intracranial meningiomas with different histological grades
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