「EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.」の関連論文
-
Real-world application of next-generation sequencing-based test for surgically resectable colorectal cancer in clinical practice (本文)
-
Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
-
Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.
-
Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
-
Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
-
Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
-
Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
-
Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
-
Long-read bitter gourd (Momordica charantia) genome and the genomic architecture of nonclassic domestication
-
Genome-wide Survival Analysis for Macular Neovascularization Development in Central Serous Chorioretinopathy Revealed Shared Genetic Susceptibility with Polypoidal Choroidal Vasculopathy
-
Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
-
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
-
Molecular analysis of drug resistance associating gene mutations in Mycobacterium tuberculosis clinical isolates in Nepal [an abstract of entire text]
-
Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
-
Genome-wide association studies on hepatocellular carcinoma after eradication of hepatitis C virus in Japanese and on chronic hepatitis B in Thai
-
Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
-
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
-
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
-
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
-
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
-
Application of Advanced Genomic Technology to Improve Timber Productivity and Wood Quality of a Commercial Timber Species in Tropical Rainforest
-
A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
-
Prognostic stratification for IDH-wild-type lower-grade astrocytoma by Sanger sequencing and copy-number alteration analysis with MLPA
-
Comprehensive Detection of Candidate Pathogens in the Lower Respiratory Tract of Pediatric Patients With Unexpected Cardiopulmonary Deterioration Using Next-Generation Sequencing
-
Genome-wide association study and HLA fine-mapping for childhood steroid-sensitive nephrotic syndrome in the Japanese population
-
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
-
The landscape of genetic aberrations in myxofibrosarcoma
-
Utilizing machine learning for detecting patients with IgA nephropathy from computerized medical bill database
-
A pipeline for complete characterization of complex germline rearrangements from long DNA reads
-
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing (本文)
-
Dysbiosis of the salivary microbiota in pediatric-onset primary sclerosing cholangitis and its potential as a biomarker
-
Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
-
Extreme genetic signatures of local adaptation during Lotus japonicus colonization of Japan.
-
Endoscopy-focused primary, secondary and tertiary prevention of colorectal cancer
-
Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
-
Evaluation of Kidney Histological Images Using Unsupervised Deep Learning
-
Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
-
Contribution of different evolutionary patterns to human sapovirus intra-host diversity
-
Clinical impact of detecting low-frequency variants in cell-free DNA on treatment of castration-resistant prostate cancer
-
Development of genetic management methods for rice varieties and prediction of spontaneous mutation frequencies using next-generation sequencing technology [an abstract of entire text]
-
Non–redundancy of Rice Mutant Library for Male Gametogenesis Confirmed by Bulked Segregants Analysis Using Illumina BeadsArray
-
A genome-wide association study identifying single nucleotide polymorphisms in the PPFIBP2 gene was predictive for interstitial lung disease in rheumatoid arthritis patients
-
6. Life Science and Medical Science
-
Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia
-
Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
-
Speciation in the Patelloida saccharina species complex across the Japanese Archipelago
-
Investigation of the current situation regarding diagnosis and treatment of Alport syndrome in Asian countries: results of survey of the Asian Paediatric Nephrology association (AsPNA) tubular and inherited working group
-
Reverse Genetic Studies on Mitochondrial tRNA-related Disorders