「Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma」の関連論文
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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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Extensive multiple organ involvement in VEXAS syndrome
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Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome
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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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Successful treatment with i.v. immunoglobulin and rituximab for bronchiolitis obliterans associated with paraneoplastic pemphigus
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Toward the next century of the Nagoya Journal of Medical Science: message from the Editor-in-chief
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Long-term risk of cancer development among anti-Th/To antibody–positive systemic sclerosis patients: comment on the article by Mecoli et al
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Subacute cutaneous lupus erythematosus with melanocyte elimination induced by pembrolizumab
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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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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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants
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Flame-like Calcifications in Werner Syndrome
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Pneumonia Caused by Severe Acute Respiratory Syndrome Coronavirus 2 and Influenza Virus: A Multicenter Comparative Study
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The 100th anniversary of the Nagoya Journal of Medical Science: a message from the Dean
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The MEK Inhibitor Trametinib Suppresses Major Histocompatibility Antigen-mismatched Rejection Following Pancreatic Islet Transplantation
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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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Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant
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Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Cav3.1 caused by a mutation responsible for spinocerebellar ataxia
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Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Cav3.1 caused by a mutation responsible for spinocerebellar ataxia
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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Koebner phenomenon seen in a case of drug-induced granular C3 dermatosis
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Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
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Oropharyngeal pleomorphic adenoma causing complete airway obstruction and cardiopulmonary arrest
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Recurrent palmoplantar pustulosis at the site of insertion of therapeutic titanium
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Development of a Highly Sensitive Method for the Detection of Cryptosporidium parvum Virus Type 1 (CSpV1)
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Letter to Editor about "A Case of Appendiceal Mucocele due to Low-grade Appendiceal Mucinous Neoplasm Correctly Differentiated from Acute Appendicitis Based on Diffusion-weighted Imaging and the Apparent Diffusion Coefficient Value (JJMRM 2020; 40: 14-19)".
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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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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Congenital cholesteatoma assessment based on staging and classification criteria for middle ear cholesteatoma proposed by the Japan Otological Society
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Oral frailty and carriage of oral Candida in community-dwelling older adults (Check-up to discover Health with Energy for senior Residents in Iwamizawa; CHEER Iwamizawa)
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Replicative capacity of SARS-CoV-2 omicron variants BA.5 and BQ.1.1 at elevated temperatures
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Squamous Cell Carcinoma at the Site of Cutaneous Lymphoid Hyperplasia
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Ossification of the posterior longitudinal ligament located on the concave side of the apex vertebra in adult spinal deformity
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Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells
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Lenvatinib-induced severe generalized erythematous rash in a patient with hepatocellular carcinoma
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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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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Analysis of Acute Type A Aortic Dissection in Japan Registry of Aortic Dissection (JRAD)
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Laparoscopic and endoscopic cooperative surgery as palliative treatment for elderly patients with gastric cancer
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A case of skin rash during oral administration of a novel androgen receptor inhibitor, darolutamide
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A Biomarker for Benign Adult Familial Myoclonus Epilepsy: High-Frequency Activities in Giant Somatosensory Evoked Potentials
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Chaperone-Mediated Autophagy Suppresses Apoptosis via Regulation of the Unfolded Protein Response during Chronic Obstructive Pulmonary Disease Pathogenesis
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Percutaneous Coronary Intervention Versus Coronary Artery Bypass Graftinge Among Patients with Unprotected Left Main Coronary Artery Disease in the New-Generation Drug-Eluting Stents Era (From the CREDO-Kyoto PCI/CABG Registry Cohort-3)
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ
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Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.
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Response to correspondence concerning “Association between kidney function and intracerebral hematoma volume”