「Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers」の関連論文
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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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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Prognostic Impact of Aortic Valve Area in Conservatively Managed Patients With Asymptomatic Severe Aortic Stenosis With Preserved Ejection Fraction
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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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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EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation
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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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Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.
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Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
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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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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Association of Cortical Superficial Siderosis with Post-Stroke Epilepsy
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Cutaneous T-cell-attracting chemokine as a novel biomarker for predicting prognosis of idiopathic pulmonary fibrosis: a prospective observational study
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Clinical characteristics and outcomes of heart failure patients with long-term care insurance ― Insights from the kitakawachi clinical background and outcome of heart failure registry
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Osborn Wave Is Related to Ventricular Fibrillation and Tachycardia in Hypothermic Patients
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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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Impact of Previous Stroke on Clinical Outcome in Elderly Patients With Nonvalvular Atrial Fibrillation: ANAFIE Registry
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Impact of Previous Stroke on Clinical Outcome in Elderly Patients With Nonvalvular Atrial Fibrillation: ANAFIE Registry
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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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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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Oral carriage of Streptococcus mutans harboring the cnm gene relates to an increased incidence of cerebral microbleeds (本文)
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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Clinical Characteristics and Outcomes of Heart Failure Patients With Long-Term Care Insurance -Insights From the Kitakawachi Clinical Background and Outcome of Heart Failure Registry-
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Analysis of Acute Type A Aortic Dissection in Japan Registry of Aortic Dissection (JRAD)
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Autoantibodies against the plakin family proteins as a novel marker for chronic graft-versus-host disease of the lung
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Extensive multiple organ involvement in VEXAS syndrome
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Kidney function, blood pressure and proteinuria were associated with pregnancy outcomes of pregnant women with chronic kidney disease: a single-center, retrospective study in the Asian population
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Predicting non-insulin-dependent state in patients with slowly progressive insulin-dependent (type 1) diabetes mellitus or latent autoimmune diabetes in adults. Reply to Sugiyama K and Saisho Y [letter]
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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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A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials
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Prehospital predicting factors using a decision tree model for patients with witnessed out-of-hospital cardiac arrest and an initial shockable rhythm
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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Response to correspondence concerning “Association between kidney function and intracerebral hematoma volume”
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Increased expression of programmed cell death ligand 1 and galectin 9 in transplant recipients who achieved tolerance after immunosuppression withdrawal
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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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Survival impact of treatment for chronic obstructive pulmonary disease in patients with advanced non-small-cell lung cancer
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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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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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The Estimated Absolute Risk of Coronary Artery Disease and Subclinical Atherosclerosis.
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Cognitive and developmental outcomes after pediatric insular epilepsy surgery for focal cortical dysplasia
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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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.