「Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant」の関連論文
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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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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation
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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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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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Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Spontaneous regression of hidroacanthoma simplex after skin biopsy
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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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Squamous Cell Carcinoma at the Site of Cutaneous Lymphoid Hyperplasia
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Koebner phenomenon seen in a case of drug-induced granular C3 dermatosis
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Recurrent palmoplantar pustulosis at the site of insertion of therapeutic titanium
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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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Clinical and serological features of dermatomyositis and systemic lupus erythematosus patients with autoantibodies to ADAR1
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Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype
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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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Confluent and reticulated papillomatosis with eruptions on the trunk and extremities
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Successful dupilumab treatment for ichthyotic and atopic features of Netherton syndrome
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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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Extensive multiple organ involvement in VEXAS syndrome
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CD4/CD8 double-negative T-cell lymphoma successfully treated with a combination of bexarotene and total skin electron beam therapy
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Lenvatinib-induced severe generalized erythematous rash in a patient with hepatocellular carcinoma
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A systemic form chronic active Epstein-Barr virus infection diagnosed from erythema nodosum-like skin lesions
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Generation of Footprint-Free Canine Induced Pluripotent Stem Cells from Peripheral Blood Mononuclear Cells Using Sendai Virus Vector
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Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Morphea in a Crohn's disease patient undergoing ustekinumab treatment
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HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
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Trp53 Mutation in Keratin 5 (Krt5)-Expressing Basal Cells Facilitates the Development of Basal Squamous-Like Invasive Bladder Cancer in the Chemical Carcinogenesis of Mouse Bladder
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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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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Clinical response in the haustra-like folds observed during peroral cholangioscopy following steroid therapy for immune checkpoint inhibitor-induced cholangitis.
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A case of skin rash during oral administration of a novel androgen receptor inhibitor, darolutamide
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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Subacute cutaneous lupus erythematosus with melanocyte elimination induced by pembrolizumab
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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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Effective use of memantine for catatonia in major depressive disorder after failure of electroconvulsive therapy: A case report
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Partial Epithelial-Mesenchymal Transition Was Observed Under p63 Expression in Acquired Middle Ear Cholesteatoma and Congenital Cholesteatoma.
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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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Single-cell transcriptomics of human cholesteatoma identifies an activin A-producing osteoclastogenic fibroblast subset inducing bone destruction
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Flame-like Calcifications in Werner Syndrome
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Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
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Validation of measurement scores for evaluating vascular anomaly skin lesions
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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Underestimation of Trisomy 18 and 13 Syndromes in Vital Statistics from Inadequate Death Certificates.
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Completely Ossified Bilateral Stylohyoid Ligaments in a Patient Undergoing Hemodialysis.
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MYC Upregulation Is a Useful Biomarker for Preoperative Neoadjuvant Chemotherapy Combined With Anti-EGFR in Liver Metastasis from Colorectal Cancer