「The landscape of genetic aberrations in myxofibrosarcoma」の関連論文
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Prognostic stratification for IDH-wild-type lower-grade astrocytoma by Sanger sequencing and copy-number alteration analysis with MLPA
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Amplified EPOR/JAK2 Genes Define a Unique Subtype of Acute Erythroid Leukemia
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EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.
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Oncogenic FGFR1 mutation and amplification in common cellular origin in a composite tumor with neuroblastoma and pheochromocytoma
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Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
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Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
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Genetic and Epigenetic Pathogenesis of Acromegaly
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Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib
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Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib
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Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing (本文)
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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia
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Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
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Relationship between gene mutations and clinicopathological features in nonampullary duodenal epithelial tumors
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A pipeline for complete characterization of complex germline rearrangements from long DNA reads
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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The association of thyroglobulin single nucleotide polymorphism with miniature dachshunds-specific inflammatory colorectal polyps and its involvement in interleukin-6 amplifier induced chronic inflammation
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Clinical impact of detecting low-frequency variants in cell-free DNA on treatment of castration-resistant prostate cancer
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Cooperative participation of epigenomic and genomic alterations in the clinicopathological diversity of gastric adenocarcinomas : significance of cell adhesion and epithelial–mesenchymal transition-related signaling pathways (本文)
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卵巣低異型度漿液性癌のin vitro発癌モデル
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Genome-wide association studies on hepatocellular carcinoma after eradication of hepatitis C virus in Japanese and on chronic hepatitis B in Thai
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Functional and genomic characterization of patient-derived xenograft model to study adaptation to mTORC1 inhibitor in clear cell renal cell carcinoma
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Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Real-world application of next-generation sequencing-based test for surgically resectable colorectal cancer in clinical practice (本文)
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Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
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A genome-wide association study identifying single nucleotide polymorphisms in the PPFIBP2 gene was predictive for interstitial lung disease in rheumatoid arthritis patients
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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Evolutionary histories of breast cancer and related clones
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Immunohistochemically Detected Expression of ATRX, TSC2, and PTEN Predicts Clinical Outcomes in Patients With Grade 1 and 2 Pancreatic Neuroendocrine Tumors
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Combination of RERG and ZNF671 methylation rates in circulating cell-free DNA: A novel biomarker for screening of nasopharyngeal carcinoma
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Impairment of DYRK2 by DNMT1-mediated transcription augments carcinogenesis in human colorectal cancer
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Development of genetic management methods for rice varieties and prediction of spontaneous mutation frequencies using next-generation sequencing technology [an abstract of entire text]
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Long-Read-Resolved, Ecosystem-Wide Exploration of Nucleotide and Structural Microdiversity of Lake Bacterioplankton Genomes
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Molecular analysis of drug resistance associating gene mutations in Mycobacterium tuberculosis clinical isolates in Nepal [an abstract of entire text]
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Application of Advanced Genomic Technology to Improve Timber Productivity and Wood Quality of a Commercial Timber Species in Tropical Rainforest
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease