「Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan」の関連論文
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Lusutrombopag effectively promotes the growth and differentiation of megakaryocytic cells from patients with myelodysplastic syndrome
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Complex roles of the actin-binding protein Girdin/GIV in DNA damage-induced apoptosis of cancer cells
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Combined Hypophysitis and Type 1 Diabetes Mellitus Related to Immune Checkpoint Inhibitors
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Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
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BRCA1 haploinsufficiency promotes chromosomal amplification under Fenton reaction-based carcinogenesis through ferroptosis-resistance
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The ocular involvement did not accompany with the genital ulcer or the gastrointestinal symptoms at the early stage Behcet’s disease
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Establishment of a heart‐on‐a‐chip microdevice based on human iPS cells for the evaluation of human heart tissue function
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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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Efficacious Combination Drug Treatment for Colorectal Cancer that Overcomes Resistance to KRAS G12C Inhibitors
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Discovery and biological significance of the sialate:O-sulfotransferases in vertebrates
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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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Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
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Systematic chemical screening identifies disulfiram as a repurposed drug that enhances sensitivity to cisplatin in bladder cancer: a summary of preclinical studies
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Osteoprotegerin Prevents Intracranial Aneurysm Progression by Promoting Collagen Biosynthesis and Vascular Smooth Muscle Cell Proliferation
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Natural genetic transformation mediates MRSA emergence
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Downregulation of lncRNA PVT1 inhibits proliferation and migration of mesothelioma cells by targeting FOXM1
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Metabolites of soil microorganisms modulate amyloid β production in Alzheimer’s neurons
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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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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Active learning efficiently converges on rational limits of toxicity prediction and identifies patterns for molecule design
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Steroid profiling for assessing adrenal hepatic syndrome in canine hepatocellular carcinoma
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Identification of calcium and integrin-binding protein 1 (CIB1) as a novel regulator of production of Amyloid β peptide using CRISPR/Cas9-based screening system
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Distinctive roles of syntaxin binding protein 4 and its action target, TP63, in lung squamous cell carcinoma: a theranostic study for the precision medicine
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Urinary MicroRNA-Based Diagnostic Model for Central Nervous System Tumors Using Nanowire Scaffolds
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Partial Epithelial-Mesenchymal Transition Was Observed Under p63 Expression in Acquired Middle Ear Cholesteatoma and Congenital Cholesteatoma.
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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
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Study on the role of CtBP2 in pancreatic β cell
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Constitutively active signaling of MDA5 in Treg cells causes apoptosis of Treg cells and results in autoimmune diseases
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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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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
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Identification of an Anti-Integrin αvβ6 Autoantibody in Patients With Ulcerative Colitis
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Dermal fibroblast-like cells reprogrammed directly from adipocytes in mouse (本文)
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Insights from a computational analysis of the SARS-CoV-2 Omicron variant: Host-pathogen interaction, pathogenicity, and possible drug therapeutics
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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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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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Studies on Age-related Changes of Lipid Metabolisms
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Bioengineering and Cell-derived Strategies for Salivary Gland Regeneration
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Physiological and Pathological Mitochondrial Clearance Is Related to Pectoralis Major Muscle Pathogenesis in Broilers With Wooden Breast Syndrome
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Conserved Double Translation Initiation Site for Δ160p53 Protein Hints at Isoform’s Key Role in Mammalian Physiology
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Left DLPFC activity is associated with plasma kynurenine levels and can predict treatment response to escitalopram in major depressive disorder
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Left DLPFC activity is associated with plasma kynurenine levels and can predict treatment response to escitalopram in major depressive disorder
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
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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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Genome-wide CRISPR/Cas9 Screen for Porcine Epidemic Diarrhea Virus Resistance in Pig Intestinal Epithelial Cells
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome