「Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism<Abstract of dissertation>」の関連論文
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Involvement of brain structures in childhood epilepsy with centrotemporal spikes
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Lusutrombopag effectively promotes the growth and differentiation of megakaryocytic cells from patients with myelodysplastic syndrome
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Genetic and chemical inhibition of IRF5 suppresses pre-existing mouse lupus-like disease
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Diagnosis and Characterization of Endoscopic Findings in XIAP Deficiency
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Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial)
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The prevalence and characteristics of hypouricemia: a descriptive study of medical check-up and administrative claims data
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Potential roles of gastroesophageal reflux in patients with superficial esophageal squamous cell carcinoma without major causative risk factors
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Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets
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Neonatal Pseudohypoaldosteronism Type-1 in Japan
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Gut bacteria identified in colorectal cancer patients promote tumourigenesis via butyrate secretion
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An autopsy case of primary gliosarcoma with multiple extracranial metastases: pathology after administration of bevacizumab and genetic profile
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Illustrative review of cardiac amyloidosis by multimodality imaging
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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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A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
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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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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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MicroRNA profiling in adults with high-functioning autism spectrum disorder
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Wilson’s disease model establishment from human induced pluripotent stem cells
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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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Subtype Distribution and Drug Resistance Patterns Among HIV-1 Strains Prevalent in Makassar, Indonesia
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Expression of urokinase-type plasminogen activator system in non-metastatic prostate cancer
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Progression of Recurrent Pancreatitis to Chronic Pancreatitis within 3 Years due to SPINK1 Mutation IVS3+2T>C
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All reported non-canonical splice site variants in GLA cause aberrant splicing
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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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Chemosensitivity of Patient-Derived Cancer Stem Cells Identifies Colorectal Cancer Patients with Potential Benefit from FGFR Inhibitor Therapy
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Multidisciplinary diagnostic approach for fulminant myocarditis related to coronavirus disease 2019 messenger RNA vaccines: a case report
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A case of Cockayne syndrome with unusually mild clinical manifestations
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Risk factors and diagnostic biomarkers for nonalcoholic fatty liver disease-associated hepatocellular carcinoma: Current evidence and future perspectives
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)
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Studies on the development of novel non-alcoholic steatohepatitis (NASH) models using rats
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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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Infertility treatment for patients having a microdeletion of azoospermic factor (AZF)
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Timing of therapeutic interventions against infection-triggered encephalopathy syndrome: a scoping review of the pediatric literature
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Safety comparisons among monoamine oxidase inhibitors against Parkinson’s disease using FDA adverse event reporting system
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Cutaneous T-cell-attracting chemokine as a novel biomarker for predicting prognosis of idiopathic pulmonary fibrosis: a prospective observational study
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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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Assessment of the association between the polymorphism rs1256031 of the estrogen receptor β gene and GDM susceptibility
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Hes1 is essential in proliferating ductal cell-mediated development of intrahepatic cholangiocarcinoma
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The Immunology of Takotsubo Syndrome
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Latest classification of ependymoma in the molecular era and advances in its treatment: a review
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Clinical significance of seasonal human coronaviruses in immunocompromised host
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Morphea in a Crohn's disease patient undergoing ustekinumab treatment
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Chronic Active Epstein–Barr Virus Infection Indistinguishable from Autoimmune Hepatitis: A Case Report