「FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients」の関連論文
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Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
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A case of Cockayne syndrome with unusually mild clinical manifestations
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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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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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Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
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Involvement of brain structures in childhood epilepsy with centrotemporal spikes
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Subtype Distribution and Drug Resistance Patterns Among HIV-1 Strains Prevalent in Makassar, Indonesia
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Studies on the molecular pathogenesis and the novel disease-associated genes in dogs with inflammatory colorectal polyps [an abstract of entire text]
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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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Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects
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Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation
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Amyloidosis of the Respiratory System: 16 Patients with Amyloidosis Initially Diagnosed Ante-mortem by Pulmonologists
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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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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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Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
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Genome-Wide Association Study Detects Loci Involved in Scab Susceptibility in Japanese Apricot
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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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Genome-wide Survival Analysis for Macular Neovascularization Development in Central Serous Chorioretinopathy Revealed Shared Genetic Susceptibility with Polypoidal Choroidal Vasculopathy
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Simultaneous Occurrence of Lichen Nitidus and Morphea
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Gut bacteria identified in colorectal cancer patients promote tumourigenesis via butyrate secretion
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Labyrinthine calcification in ears with otitis media and antineutrophil cytoplasmic antibody-associated vasculitis (OMAAV): A report of two cases
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Paraproteinemia and neuropathy
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Sarcomatoid mesothelioma diagnosed in a patient with mesothelioma in situ: a case report on morphologic differences after 9-month interval with details analysis of cytology in early-stage mesothelioma
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Development of Monoclonal Antibodies and Antigen-Capture ELISA for Human Parechovirus Type 3
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Safety and tolerability of bosutinib in patients with amyotrophic lateral sclerosis (iDReAM study): A multicentre, open-label, dose-escalation phase 1 trial
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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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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Utility of plasma circulating tumor DNA and tumor DNA profiles in head and neck squamous cell carcinoma
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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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Development of highly efficient methods for comprehensive pathogen detection using next generation sequencing
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Latest classification of ependymoma in the molecular era and advances in its treatment: a review
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Improvement of mouse genome editing protocol and the application:investigation of the physiological roles of glycine receptor alpha 4 subunit.
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Clinical trial on the efficacy and safety of NPC-15 for patients with xeroderma pigmentosum exaggerated sunburn reaction type: XP-1 study protocol for a multicentre, double-blinded, placebo-controlled, two-group crossover study followed by a long-term open study in Japan
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Relationship between gene mutations and clinicopathological features in nonampullary duodenal epithelial tumors
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A case of localized tracheobronchial relapsing polychondritis with positive matrilin-1 staining.
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Diagnosis and Characterization of Endoscopic Findings in XIAP Deficiency
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Prevalence of incidental meningiomas and gliomas on MRI : a meta-analysis and meta-regression analysis.
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Evolutionary genetics of socioemotional behavior in humans and other mammals
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Clinical characteristics and outcomes of the right congenital diaphragmatic hernia compared to the left: a 10-year single-center experience
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Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire survey
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Variation of body weight and seasonal reproduction in populations from different latitudes: genetic analyses using wild-derived medaka fish
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Illustrative review of cardiac amyloidosis by multimodality imaging
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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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Optimized sonoreactor for accelerative amyloid-fibril assays through enhancement of primary nucleation and fragmentation
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Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency
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Genetic and Epigenetic Pathogenesis of Acromegaly