「4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay」の関連論文
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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Bilateral Tibial Proximal Fractures Caused by Secondary Osteomalacia due to Autoimmune Polyendocrine Syndrome Type 2: A Case Report
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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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Polo-like kinase 4 and stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Combined Hypophysitis and Type 1 Diabetes Mellitus Related to Immune Checkpoint Inhibitors
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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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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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Endothelial cell malfunction in unruptured intracranial aneurysm lesions revealed using a 3D-casted mold
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Pulmonary syphilis with a cicatricial variant of organizing pneumonia: a case report
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Molecular and pathologic characterization of avian adenovirus isolated from the oviducts of laying hens in eastern Japan
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Case report of a ventricular fibrillation storm with a cardiac conduction disorder and HCN4 variant 18 years after ablation of atrial flutter
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A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
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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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An old model with new insights: endogenous retroviruses drive the evolvement toward ASD susceptibility and hijack transcription machinery during development
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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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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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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聴力障害で発症した高安動脈炎:症例報告とその臨床背景
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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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Cell migration is impaired in XPA-deficient cells
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Two effects of GATA2 enhancer repositioning by 3q chromosomal rearrangements.
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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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Fish bone migration after pancreaticoduodenectomy: Incidence and treatment options
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Alterations of voluntary behavior in the course of disease progress and pharmacotherapy in mice with collagen-induced arthritis
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Fatal Dieulafoy lesion with IgG4-related disease: An autopsy 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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Gestational psittacosis: A case report and literature review.
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An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22
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GOS2 regulates innate immunity of Kawasaki disease via IncRNA RP1-280 10.1
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Dysmenorrhea due to undiagnosed obstructed hemi-vagina and ipsilateral renal anomaly syndrome can become a cause of suicide.
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A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy
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Development of highly efficient methods for comprehensive pathogen detection using next generation sequencing
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Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects
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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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The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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Presence of endolymphatic hydrops on listening difficulties in patients with normal hearing level
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A Case Report of an Accessory and Cavitated Uterine Mass Treated with Total Laparoscopic Hysterectomy
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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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Automated evaluation of retinal pigment epithelium disease area in eyes with age-related macular degeneration
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Infertility treatment for patients having a microdeletion of azoospermic factor (AZF)
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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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Clinical characteristics and outcomes of the right congenital diaphragmatic hernia compared to the left: a 10-year single-center experience
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Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
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Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
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Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants