「Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.」の関連論文
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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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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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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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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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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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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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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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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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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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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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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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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
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6. Life Science and Medical Science
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Long-read bitter gourd (Momordica charantia) genome and the genomic architecture of nonclassic domestication
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder
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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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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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A pipeline for complete characterization of complex germline rearrangements from long DNA reads
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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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Genetic basis of female-limited polymorphism of the damselfly Ischnura senegalensis
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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Spontaneous regression of hidroacanthoma simplex after skin biopsy
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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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Evaluation of Kidney Histological Images Using Unsupervised Deep Learning
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Development, test and application of a new intra-taxon sampling method based on geographic information
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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Comparative Plastid Genomics of Green-Colored Dinoflagellates Unveils Parallel Genome Compaction and RNA Editing
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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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An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22
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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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Identification of Quantitative Trait Loci (QTL) for Production Traits in Japanese Quail (Coturnix japonica)
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Calcium-Binding Protein S100A4 Is Upregulated in Carotid Atherosclerotic Plaques and Contributes to Expansive Remodeling
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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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Bioengineering and Cell-derived Strategies for Salivary Gland Regeneration
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Predictive gamma passing rate for three-dimensional dose verification with finite detector elements via improved dose uncertainty potential accumulation model
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Predictive gamma passing rate for three-dimensional dose verification with finite detector elements via improved dose uncertainty potential accumulation model
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Individual Differences in Autistic Traits are Associated with Serotonin Transporter Gene Polymorphism Through Medial Prefrontal Function: A Study Using NIRS