「Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism」の関連論文
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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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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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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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Temporal arteritis with focal pachymeningitis: a deceptive association
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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Evolutionary histories of breast cancer and related clones
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Combined Hypophysitis and Type 1 Diabetes Mellitus Related to Immune Checkpoint Inhibitors
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Pharmacogenomic study of anti-tuberculosis drugs-induced liver injury in Thais
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Pulmonary syphilis with a cicatricial variant of organizing pneumonia: a case report
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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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An autopsy case of primary gliosarcoma with multiple extracranial metastases: pathology after administration of bevacizumab and genetic profile
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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method
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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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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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Evolutionary genetics of socioemotional behavior in humans and other mammals
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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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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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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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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
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Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population
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The Natural History of Spontaneously Occurred Endometriosis in Cynomolgus Monkeys by Monthly Follow-Up Laparoscopy for Two Years.
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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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Real-life progression of the use of a genetic panel in to diagnose neonatal cholestasis
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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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Postoperative supraventricular tachycardia and polymorphic ventricular tachycardia due to a novel SCN5A variant: a case report of a rare comorbidity that is difficult to diagnose.
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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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Failure of internal fixation for ankle joint Charcot neuroarthropathy with beta(2)-microglobulin amyloidosis: a case report
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Case report : Vascular graft infection due to Aspergillus species presenting with recurrent vascular occlusion
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Chronic Active Epstein–Barr Virus Infection Indistinguishable from Autoimmune Hepatitis: A Case Report
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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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An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development
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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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Simultaneous Occurrence of Lichen Nitidus and Morphea
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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Genetic and Epigenetic Pathogenesis of Acromegaly
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A case of localized tracheobronchial relapsing polychondritis with positive matrilin-1 staining.
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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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Paraproteinemia and neuropathy
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A pipeline for complete characterization of complex germline rearrangements from long DNA reads
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Vertical Transmission of Coxsackievirus A6 with Severe Congenital Pneumonia/Sepsis
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思春期早発症の9歳女児に急性発症した上腸間膜動脈症候群の1例
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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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Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency