38 results on '"Nishikomori R."'
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2. 5326Can patient-derived iPSCs be applied to phenotypic cell-based high throughput screening assessment to distinguish between different types of long-QT syndrome?
3. A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome
4. Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency
5. AB0995 Clinical, therapeutic, and genetic analyses in a patient with papa syndrome complicated with inflammatory bowel disease
6. High level of serum human interleukin-18 in a patient with pyogenic arthritis, pyoderma gangrenosum and acne syndrome
7. Remarkable improvement of articular pain by biologics in a Multicentric carpotarsal osteolysis patient with a mutation of MAFB gene.
8. Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology
9. Clinical and genetic analyses in a patient with PAPA syndrome complicated with inflammatory bowel disease
10. Somatic NLRP3 mosaicism in Muckle-Wells syndrome
11. A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study
12. P03-023 – Autoinflammatory diseases database in Japan
13. PW02-029 - Single cell fluorescent immunoassay of CINCA/NOMID
14. A Japanese pediatric patient with coexisting systemic lupus erythematosus and familial Mediterranean fever
15. Reply
16. Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus
17. Guidelines for the genetic diagnosis of hereditary recurrent fevers
18. Gastric ulcer and gastroenteritis caused by Epstein-Barr virus during immunosuppressive therapy for a child with systemic juvenile idiopathic arthritis
19. Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing
20. Cryopyrin-associated Periodic Syndrome: A Case Report and Review of the Japanese Literature
21. The CD40-CD40L axis and IFN- play critical roles in Langhans giant cell formation
22. Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupus
23. Dosing patterns of canakinumab in patients with Cryopyrin-Associated Periodic Syndromes (CAPS): A comparative analysis of a study in Western versus Japanese patients
24. Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID patients using next-generation sequencing
25. DOHaD and Allergic Diseases in Schoolchildren: Does IUGR Affect Risk of Allergic Diseases?
26. Birth Order Effect on the Prevalence of Childhood Allergy: Comparisons among Different Allergic Diseases
27. Screening of Untreated Schoolchildren with Allergic Symptoms - How many are left untreated?
28. Total and LDL Cholesterol Are Associated with Atopic Status in Schoolchildren
29. Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15
30. Breast-feeding in Infancy and the Prevalence of Allergic Diseases in Schoolchildren-Does Reverse Causation Matter?
31. Growth Of Schoolchildren With Food Allergy To Egg, Milk, Or Wheat In Infancy
32. Allergic Status of Schoolchildren with Food Allergy to Egg, Milk or Wheat in Infancy
33. Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen
34. Childhood Obesity as a Possible Aggravating Factor of Atopic Dermatitis
35. SPINK5 polymorphism and disease severity among Japanese children with atopic dermatitis
36. Pyrrolidine dithiocarbamate inhibits intercellular adhesion molecule-1 biosynthesis induced by cytokines in human fibroblasts.
37. Cis-acting DNA elements of mouse granulocyte-macrophage colony-stimulating factor gene responsive to Fc epsilon receptor cross-linking stimulation in the mouse mast cell line MC/9.
38. Molecular Basis for Developmental Changes of GM-CSF Gene Inducibility in Embryonal Carcinoma Cells
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