481 results on '"Taketani, Takeshi"'
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2. Highly-purified rapidly expanding clones, RECs, are superior for functional-mitochondrial transfer
3. The magnitude of CXCR4 signaling regulates resistance to quizartinib in FLT3/ITD+ cells via RUNX1
4. Engraftment of human mesenchymal stem cells in a severely immunodeficient mouse
5. Prevalence of common aneuploidy in twin pregnancies
6. NUDT15 is a key genetic factor for prediction of hematotoxicity in pediatric patients who received a standard low dosage regimen of 6-mercaptopurine
7. Exploring a Unique RUNX1 Germline Mutation with a Double Nucleotide Variant: Implications for Clinical Significance.
8. Hypophosphatasia
9. A Japanese Boy With Spotted Fever and Overlapping Symptoms of Kawasaki Disease: A Case Report
10. MELAS-Derived Neurons Functionally Improve by Mitochondrial Transfer from Highly Purified Mesenchymal Stem Cells (REC)
11. The feasibility of Gazefinder under 12 months of age infants
12. Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
13. High incidence of status epilepticus and ongoing seizures on arrival to the hospital due to high prevalence of febrile seizures in Izumo, Japan: A questionnaire-based study
14. Exploring a Unique RUNX1 Germline Mutation with a Double Nucleotide Variant: Implications for Clinical Significance
15. PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma
16. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency
17. Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders
18. Extracellular Vesicles and Cx43-Gap Junction Channels Are the Main Routes for Mitochondrial Transfer from Ultra-Purified Mesenchymal Stem Cells, RECs
19. Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay
20. Neurological Symptoms of Hypophosphatasia
21. Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases
22. Molecular Interaction Between the Microenvironment and FLT3/ITD+ AML Cells Leading to the Refractory Phenotype
23. Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype
24. Additional file 2 of Highly-purified rapidly expanding clones, RECs, are superior for functional-mitochondrial transfer
25. Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases
26. Combined transcatheter aortic valve implantation and type II endoleak repair after endovascular repair for abdominal aortic aneurysm
27. An Adolescent Case With Ewing Sarcoma of the Kidney
28. Low-density lipoprotein as a biomarker for the mobilization of hematopoietic stem cells in peripheral blood
29. Internal tandem duplication of FLT3 deregulates proliferation and differentiation and confers resistance to the FLT3 inhibitor AC220 by Up-regulating RUNX1 expression in hematopoietic cells
30. Effects of Yang-warming and Fluid Retention-resolving Method on the Expression of PI3K-Akt Pathway and Related Apoptotic Proteins in Chronic Heart Failure Rats
31. ACTH-independent Cushing’s syndrome due to ectopic endocrinologically functional adrenal tissue caused by a GNAS heterozygous mutation: a rare case of McCune–Albright syndrome accompanied by central amenorrhea and hypothyroidism: a case report and literature review
32. Clinical and molecular features of patients with COL1‐related disorders: Implications for the wider spectrum and the risk of vascular complications
33. Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1
34. A Simple Flow Injection Analysis–Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions
35. The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening
36. Free Carnitine Levels during Cardiac Peri-Operative Periods with Cardiopulmonary Bypass in Pediatric Patients with Congenital Heart Diseases
37. Idiopathic pulmonary hemosiderosis: A mimic of severe COVID‐19 pneumonia
38. Cytogenetics and clinical features of pediatric myelodysplastic syndrome in Japan
39. Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti
40. Pediatric granulomatous orchitis: Case report and review of the literature
41. Clinical Application to Hematological Diseases of Mesenchymal Stem Cells
42. Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events
43. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia
44. Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)
45. Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
46. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
47. Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
48. A pediatric case of food-dependent exercise-induced anaphylaxis due to rice bran
49. The feasibility of Gazefinder under 12 months of age infants
50. Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan
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