「Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism<Abstract of dissertation>」の関連論文
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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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Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
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Paraneoplastic isolated adrenocorticotropic hormone deficiency revealed after immune checkpoint inhibitors therapy: new insights into anti-corticotroph antibody
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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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Dysbiosis of the salivary microbiota in pediatric-onset primary sclerosing cholangitis and its potential as a biomarker
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Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects
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Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population
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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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The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy
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The landscape of genetic aberrations in myxofibrosarcoma
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Beneficial screening of Fabry disease in patients with hypohidrosis
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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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Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia
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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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Paraneoplastic Pemphigus Mimicking Toxic Epidermal Necrolysis Associated with Follicular Lymphoma: Possible Pathological Role of CD8 T Cells.
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Universal screening for familial hypercholesterolemia in children in Kagawa, Japan
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Genetic and Epigenetic Pathogenesis of Acromegaly
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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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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卵巣低異型度漿液性癌のin vitro発癌モデル
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Analysis of immunologic comorbidities in ulcerative colitis patients: a tool to prevent exacerbations in ulcerative colitis cases
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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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Utility of plasma circulating tumor DNA and tumor DNA profiles in head and neck squamous cell carcinoma
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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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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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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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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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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population
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Aseptic meningitis as an initial presentation of Sjögren syndrome: a report of two cases and literature review
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Kynurenic acid is a potential overlapped biomarker between diagnosis and treatment response for depression from metabolome analysis
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Kynurenic acid is a potential overlapped biomarker between diagnosis and treatment response for depression from metabolome analysis
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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Temporal arteritis with focal pachymeningitis: a deceptive association
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Clinical Significance of Serum Galectin-9 and Soluble CD155 Levels in Patients with Systemic Sclerosis
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Usefulness of interleukin-18 as a diagnostic biomarker to differentiate adult-onset Still’s disease with/without macrophage activation syndrome from other secondary hemophagocytic lymphohistiocytosis in adults
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Comment to our article; Effects of varicocelectomy on testis volume and semen parameters in adolescents: a randomized prospective study
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Evolutionary histories of breast cancer and related clones
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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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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
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Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver 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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Occurrence of cholangiocarcinoma, three years after negative seroconversion of anti-TIF1γ antibody, in a dermatomyositis patient
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Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers
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A case of eosinophilic polyangiitis with granulomatosis that evolved to cardiac arrest due to advanced atrioventricular block
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo