1,448 results on '"Kure, Shigeo"'
Search Results
2. Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
3. Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
4. Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
5. Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27)
6. A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
7. Consideration of the reference value and number of measurements of the urinary sodium-to-potassium ratio based on the prevalence of untreated home hypertension: TMM Cohort Study
8. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project
9. Association of maternal psychological distress and the use of childcare facilities with children's behavioral problems: the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study
10. Effectiveness of third vaccine dose for coronavirus disease 2019 during the Omicron variant pandemic: a prospective observational study in Japan
11. Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
12. Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study
13. Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia–telangiectasia caused by novel compound heterozygous variants in ATM
14. Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency
15. Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis
16. Impacts of the urinary sodium-to-potassium ratio, sleep efficiency, and conventional risk factors on home hypertension in a general Japanese population
17. Inhibition of platelet-derived growth factor pathway suppresses tubulointerstitial injury in renal congestion
18. A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor
19. Low birth weight and abnormal pre-pregnancy body mass index were at higher risk for hypertensive disorders of pregnancy
20. Behavioral problems and family distress in tuberous sclerosis complex
21. Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2
22. Hypertensive disorders of pregnancy, obesity, and hypertension in later life by age group: a cross-sectional analysis
23. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project
24. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals
25. COVID-19 transmission in group living environments and households
26. Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
27. Long-term outcome of a group of Japanese children with myelin-oligodendrocyte glycoprotein encephalomyelitis without preventive immunosuppressive therapy
28. Future Clinical Perspectives on RNF213 in Moyamoya Disease
29. Pathological Investigation on RNF213: Animal Models of Rnf213-Knockout and Knock-in Mice
30. Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation
31. Multiple measurements of the urinary sodium-to-potassium ratio strongly related home hypertension: TMM Cohort Study
32. Reduced sleep efficiency, measured using an objective device, was related to an increased prevalence of home hypertension in Japanese adults
33. [18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome
34. Severity of eczema and mental health problems in Japanese schoolchildren: The ToMMo Child Health Study
35. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
36. The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
37. Intra-individual cognitive imbalance in ASD between perceptual reasoning and ambiguity-solving related to tool use: Comparison among children exhibiting ASD, AD/HD, and typical development
38. Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea
39. Biallelic GALM pathogenic variants cause a novel type of galactosemia
40. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome
41. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
42. Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency
43. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
44. Menkes disease: Oral administration of glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) rescues the macular mouse
45. Clustering by phenotype and genome-wide association study in autism
46. Alterations in physique among young children after the Great East Japan Earthquake: Results from a nationwide survey
47. Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity
48. A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system
49. GATA2 haploinsufficiency accelerates EVI1-driven leukemogenesis
50. Design of the health examination survey on early childhood physical growth in the Great East Japan Earthquake affected areas
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