「Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis」の関連論文
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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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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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Real-world application of next-generation sequencing-based test for surgically resectable colorectal cancer in clinical practice (本文)
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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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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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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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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Dysbiosis of the salivary microbiota in pediatric-onset primary sclerosing cholangitis and its potential as a biomarker
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Gut bacteria identified in colorectal cancer patients promote tumourigenesis via butyrate secretion
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Endoscopy-focused primary, secondary and tertiary prevention of colorectal cancer
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Comparison of efficacy and safety outcomes of anticancer drugs between Japanese patients and the overall population in multi-regional clinical trials
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Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese : the Japan Multi-Institutional Collaborative Cohort Study
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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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Prognostic stratification for IDH-wild-type lower-grade astrocytoma by Sanger sequencing and copy-number alteration analysis with MLPA
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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HLA-B*51:01 and CYP2C9*3 are risk factors for phenytoin-induced eruption in the Japanese population: analysis of data from the Biobank Japan Project
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Long-read bitter gourd (Momordica charantia) genome and the genomic architecture of nonclassic domestication
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Genome-wide Survival Analysis for Macular Neovascularization Development in Central Serous Chorioretinopathy Revealed Shared Genetic Susceptibility with Polypoidal Choroidal Vasculopathy
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Single-cell transcriptomics of human cholesteatoma identifies an activin A-producing osteoclastogenic fibroblast subset inducing bone destruction
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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
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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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Extreme genetic signatures of local adaptation during Lotus japonicus colonization of Japan.
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Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia
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A proof-of-concept study to construct Bayesian network decision models for supporting the categorization of sudden unexpected infant death
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Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.
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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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A RUNX-targeted gene switch-off approach modulates the BIRC5/PIF1-p21 pathway and reduces glioblastoma growth in mice
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Risk factors for cisplatin-induced acute kidney injury: A pilot study on the usefulness of genetic variants for predicting nephrotoxicity in clinical practice
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In silico study of RNA-seq and H3 Trimethylation ChIP-seq analysis in combination with laser-microdissection on human lung cancer cells
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Genetic and chemical inhibition of IRF5 suppresses pre-existing mouse lupus-like disease
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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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Trp53 Mutation in Keratin 5 (Krt5)-Expressing Basal Cells Facilitates the Development of Basal Squamous-Like Invasive Bladder Cancer in the Chemical Carcinogenesis of Mouse Bladder
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Regional spread of three distinct genotypes of Mycoplasma pneumoniae and different timing of macrolide-resistant strain appearance among genotypes between 2011 and 2013 in Yamagata, Japan
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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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Autoantibodies against the plakin family proteins as a novel marker for chronic graft-versus-host disease of the lung
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Evaluation of Kidney Histological Images Using Unsupervised Deep Learning
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Clinical Significance of Serum Galectin-9 and Soluble CD155 Levels in Patients with Systemic Sclerosis