「TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum」の関連論文
-
Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
-
Completely Ossified Bilateral Stylohyoid Ligaments in a Patient Undergoing Hemodialysis.
-
Failure of internal fixation for ankle joint Charcot neuroarthropathy with beta(2)-microglobulin amyloidosis: a case report
-
Case of osteopetrosis with multiple impacted primary and permanent teeth diagnosed at eight years old
-
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias
-
A clinical and genetic study of SPG31 in Japan
-
Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
-
Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
-
A case of Erdheim–Chester disease with the BRAF V600E mutation diagnosed via endoscopic sinus surgery
-
Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder
-
Bone fragility via degradation of bone quality featured by collagen/apatite micro-arrangement in human rheumatic arthritis
-
Morphea in a Crohn's disease patient undergoing ustekinumab treatment
-
Concepts of Regeneration for Spinal Diseases in 2021
-
Development of Remote Inflammation through Interneuron Network in the Spinal Cord
-
Temporal arteritis with focal pachymeningitis: a deceptive association
-
Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
-
Age-related macular degeneration affects the optic radiation white matter projecting to locations of retinal damage
-
Confluent and reticulated papillomatosis with eruptions on the trunk and extremities
-
Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
-
Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
-
Clinical and genetic features of cystic fibrosis in Japan
-
Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population
-
The Natural History of Spontaneously Occurred Endometriosis in Cynomolgus Monkeys by Monthly Follow-Up Laparoscopy for Two Years.
-
Increased Ratio of CD14⁺⁺CD80⁺ Cells/CD14⁺⁺CD163⁺ Cells in the Infrapatellar Fat Pad of End-stage Arthropathy Patients
-
Beneficial screening of Fabry disease in patients with hypohidrosis
-
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
-
Simultaneous Occurrence of Lichen Nitidus and Morphea
-
Classification of glomerular pathological findings using deep learning and nephrologist-AI collective intelligence approach
-
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
-
Simple, Frequent Indicator for Personal Identification-Postmortem and Antemortem Abdominal Computed Tomography Findings of a Charred Body.
-
Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects
-
Continued growth of locally aggressive fibrous dysplasia of 22 years duration after reaching adulthood: a case report
-
Structural brain changes in severe and enduring anorexia nervosa: A multimodal magnetic resonance imaging study of gray matter volume, cortical thickness, and white matter integrity
-
Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
-
Labyrinthine calcification in ears with otitis media and antineutrophil cytoplasmic antibody-associated vasculitis (OMAAV): A report of two cases
-
A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
-
Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
-
Secondary aneurysmal bone cyst of the frontal bone with fibrous dysplasia showing rapid expansion: a case report
-
Pattern of THK 5351 retention in normal aging involves core regions of resting state networks associated with higher cognitive function
-
Fatal Dieulafoy lesion with IgG4-related disease: An autopsy case report
-
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
-
Analysis of immunologic comorbidities in ulcerative colitis patients: a tool to prevent exacerbations in ulcerative colitis cases
-
The ocular involvement did not accompany with the genital ulcer or the gastrointestinal symptoms at the early stage Behcet’s disease
-
Iinfluence of plasma cytokine levels on the conversion risk from MCI to dementia in the Alzheimer's disease neuroimaging initiative database
-
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
-
Case report : Vascular graft infection due to Aspergillus species presenting with recurrent vascular occlusion
-
Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
-
Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
-
Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
-
Endothelial cell malfunction in unruptured intracranial aneurysm lesions revealed using a 3D-casted mold