243 results on '"Okamura, Kohji"'
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2. Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD
3. Collection of 2429 constrained headshots of 277 volunteers for deep learning
4. A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1
5. Delayed Degradation and Impaired Dendritic Delivery of Intron-Lacking EGFP-Arc/Arg3.1 mRNA in EGFP-Arc Transgenic Mice
6. NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia
7. Differentiation of large extracellular vesicles in oral fluid: Combined protocol of small force centrifugation and sedimentation pattern analysis
8. Delayed Degradation and Impaired Dendritic Delivery of Intron-Lacking EGFP-Arc/Arg3.1 mRNA in EGFP-Arc Transgenic Mice.
9. High-precision multiclass cell classification by supervised machine learning on lectin microarray data
10. Identification of an epigenetic signature in human induced pluripotent stem cells using a linear machine learning model
11. Diversification of CpG-Island Promoters Revealed by Comparative Analysis Between Human and Rhesus Monkey Genomes
12. Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome
13. Single-exon deletions ofZNRF3exon 2 cause congenital adrenal hypoplasia
14. Differentiation of Large Extracellular Vesicles in Oral Fluid: Combined Protocol of Small Force Centrifugation and Pattern Analysis
15. Prevalence of pathogenic variants in cancer‐predisposing genes in second cancer after childhood solid cancers
16. Single-Exon Deletions of ZNRF3Exon 2 Cause Congenital Adrenal Hypoplasia
17. Comprehensive analysis of whole genome methylation in mouse blastocysts cultured with four different constituents following in vitro fertilization
18. In vivo maturation of human embryonic stem cell-derived teratoma over time
19. Data from Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation
20. Supplementary Information from Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation
21. Integrator complex subunit 15 controls mRNA splicing and is critical for eye development
22. Re-evaluation of whole exome sequencing, including intronic region, in combination with genetic intolerance score for detecting foetal structural anomalies in X-linked disorders
23. Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum
24. Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells
25. Automated urinary sediment detection for Fabry disease using deep-learning algorithms
26. Integrator complex subunit 15 controls mRNA splicing and is critical for eye development
27. Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones
28. Pseudoautosomal gene SHOX exhibits sex-biased random monoallelic expression and contributes to sex difference in height
29. DNA methylation analysis of human myoblasts during in vitro myogenic differentiation: de novo methylation of promoters of muscle-related genes and its involvement in transcriptional down-regulation
30. Specimen-specific drift of densities defines distinct subclasses of extracellular vesicles from human whole saliva
31. Profiling ascidian promoters as the primordial type of vertebrate promoter
32. Global variation in copy number in the human genome
33. Gradual transition from mosaic to global DNA methylation patterns during deuterostome evolution
34. Collection of 2429 constrained headshots of 277 volunteers for deep learning
35. Identification of an epigenetic signature in human induced pluripotent stem cells using a linear machine learning model
36. Cross-validated methods for promoter/transcription start site mapping in SL trans-spliced genes, established using the Ciona intestinalis troponin I gene
37. Exploring trophoblast-specific Tead4 enhancers through chromatin conformation capture assays followed by functional screening
38. Epitranscriptomic profiling in human placenta: N6‐methyladenosine modification at the 5′‐untranslated region is related to fetal growth and preeclampsia
39. Retrotransposition as a Source of New Promoters
40. Additional file 2: of Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells
41. Characteristics of genetic alterations of peripheral T‐cell lymphoma in childhood including identification of novel fusion genes: the Japan Children's Cancer Group (JCCG).
42. Acute promyelocytic leukemia with a cryptic insertion of RARA into TBL1XR1
43. A novel KMT2A‐ACTN2 fusion in infant B‐cell acute lymphoblastic leukemia
44. Whole transcriptome sequencing reveals a KMT2A‐USP2 fusion in infant acute myeloid leukemia
45. NUDT15variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia
46. Evolutionary implications of inversions that have caused intra-strand parity in DNA
47. Exploring trophoblast-specific Tead4 enhancers through chromatin conformation capture assays followed by functional screening.
48. Epitranscriptomic profiling in human placenta: N6‐methyladenosine modification at the 5′‐untranslated region is related to fetal growth and preeclampsia.
49. Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation
50. An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome
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