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343 results on '"Uchiyama, Toru"'

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7. Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD

9. Diagnostic delay of MYH9‐related disorder in Japan

10. Hematopoietic stem cell transplantation in two sisters with bone marrow failure associated with POLE gene variants

17. Melting temperature mapping method in children: Rapid identification of pathogenic microbes

19. Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1

24. A prospective study of allogeneic transplantation from unrelated donors for chronic granulomatous disease with target busulfan-based reduced-intensity conditioning

25. Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms

27. STAT6 gain-of-function variant exacerbates multiple allergic symptoms

28. Data from Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation

29. Supplementary Information from Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation

30. Successful TCRαβ/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency

31. Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1

32. Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

34. Measurement of immature platelet fraction is useful in the differential diagnosis of MYH9 disorders.

37. Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody

39. Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study.

45. Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3.

46. Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones

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