「Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method」の関連論文
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Acquired dysfibrinogenemia: monoclonal λ-type IgA binding to fibrinogen caused lower functional plasma fibrinogen level and abnormal clot formation
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Automated screening procedure for the phenotypes of congenital fibrinogen disorders using novel parameters, |min1|c and Ac/|min1|c, obtained from clot waveform analysis using the Clauss method
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment
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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report
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Clinical Significance of Serum Galectin-9 and Soluble CD155 Levels in Patients with Systemic Sclerosis
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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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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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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
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Steroid profiling for assessing adrenal hepatic syndrome in canine hepatocellular carcinoma
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Clinical and genetic features of cystic fibrosis in Japan
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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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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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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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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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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Decreased serum phosphate levels are a useful biomarker to predict occurrence and severity of cytokine release syndrome in chimeric antigen receptor T-cell therapy
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Risk factors for cisplatin-induced acute kidney injury: A pilot study on the usefulness of genetic variants for predicting nephrotoxicity in clinical practice
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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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Paraproteinemia and neuropathy
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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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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Combined Hypophysitis and Type 1 Diabetes Mellitus Related to Immune Checkpoint Inhibitors
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Neonatal Pseudohypoaldosteronism Type-1 in Japan
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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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The prevalence and characteristics of hypouricemia: a descriptive study of medical check-up and administrative claims data
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Universal screening for familial hypercholesterolemia in children in Kagawa, Japan
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Identification of anti-citrullinated osteopontin antibodies and increased inflammatory response by enhancement of osteopontin binding to fibroblast-like synoviocytes in rheumatoid arthritis
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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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Mass spectrometric quantitation of AGEs and enzymatic crosslinks in human cancellous bone
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Beneficial screening of Fabry disease in patients with hypohidrosis
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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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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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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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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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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A genome-wide association study identifying single nucleotide polymorphisms in the PPFIBP2 gene was predictive for interstitial lung disease in rheumatoid arthritis patients
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Population genetics of variants in infectious diseases and its application to the prediction of variant replacement