48 results on '"Mitsuhashi, S"'
Search Results
2. FSHD / OPMD / MYOTONIC DYSTROPHY: P.224 A homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
3. GGC repeat expansion in NOTCH2NLC is the cause of both sporadic and familial neuronal intranuclear inclusion disease
4. MYOFIBRILLAR AND DISTAL MYOPATHIES: P.246GNE myopathy in Chinese population: hotspot and novel mutations
5. NEW GENES, FUNCTIONS AND BIOMARKERS: O.3A patient-derived iPSC model reveals that genotoxic stresses can be risk factors by increasing the causative DUX4 expression in facio-scapulo-humeral muscular dystrophy
6. An ERP study of inhibitory control in adults with developmental coordination disorder
7. Effect of dose timing on the blood concentration of lapatinib in patients with breast cancer
8. Nanopore-based single molecule sequencing for D4Z4 array responsible for facioscapulohumeral muscular dystrophy
9. Comprehensive screening for genetic diagnosis in large Japanese congenital myopathy cohort
10. Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy
11. P.20 - Comprehensive analysis: Nonsense mutation induced exon skipping in Becker muscular dystrophy
12. P.357 - The novel STIM1 mutation with tubular aggregate myopathy and its pathogenicity
13. P.280 - Alu-mediated copy number variants in GNE myopathy
14. P.249 - Comprehensive screening for genetic diagnosis in large Japanese congenital myopathy cohort
15. A.O.8 - Gene variants in SMCHD1 and DNMT3B modify the risk for FSHD
16. P.199 - Signal abnormalities of muscle and fascia in muscular MRI imaging at pretreatment stage in children with juvenile dermatomyositis
17. P.190 - Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl–coenzyme a reductase antibodies
18. P.102 - Current status of dystrophinopathy national registry in Japan
19. P.19 - Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: Validation analysis of DMD mutations
20. G.P.375 - Novel variant blossom: From pathology to next generation sequencing to cellular biology
21. G.P.374 - High-throughput genetic testing for muscle disease and an exome database of the undiagnosed in Japan
22. G.P.311 - A novel LMNA mutation causes severe congenital phenotype with cytoplasmic bodies
23. G.P.273 - Homozygous splicing mutation in ISPD gene in a girl with Walker–Warburg syndrome
24. G.P.209 - Plasma IP-10 level distinguishes inflammatory myopathy
25. G.P.59 - Gene mutation screening using whole exome sequencing in lipid storage myopathy
26. G.P.60 - Mutations in iron–sulfur cluster assembly gene IBA57 cause progressive cavitating leukoencephalopathy
27. Progressive Wild-Type Transthyretin Deposition after Liver Transplantation Preferentially Occurs onto Myocardium in FAP Patients
28. G.P.258: National registry of Japanese dystrophinopathy patients: Remudy
29. G.P.160: Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy
30. G.P.155: A first Asian MEGF10 myopathy due to novel homozygous mutation
31. A.P.8: Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure (HMERF)
32. G.P.68: The utility of anti-cN1A autoantibody for the diagnosis of sporadic inclusion body myositis
33. O1–084 - A Retrospective Analysis of Cancer of Unknown Primary in Ibaraki Prefectural Central Hospital
34. P2.62 Expanding clinicopathological findings observed in the Asian patients with VCP mutation
35. O.11 A novel congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis
36. G.P.8.04 Vascular glycogen storage in Pompe disease demonstrated by epon-embedded muscle section
37. Numerical simulation of a hybrid negative ion source
38. Transduction of Amikacin, gentamicin and tobramycin resistance in pseudomonas aeruginosa with phage F 116 and AP 19, a new wildtype phage
39. Transduction of Amikacin, Gentamicin and Tobramycin Resistance in Pseudomonas aeruginosa
40. Effect of simple shear flow on photosynthesis rate and morphology of micro algae
41. Competitive protein binding assay for activin [formula omitted] using follistatin determination of activin levels in human plasma
42. Cyclosporine, a Sensitive Peptidyl-Prolyl cis-trans Isomerase in a Halophilic Archaeum, Halobacterium cutirubrum
43. CONVERSION OF d-XYLOSE TO d-XYLULOSE IN EXTRACTS OF LACTOBACILLUS PENTOSUS
44. CHAPTER 9 - Resistance to Macrolides and Lincomycins
45. AN EXPERIMENTAL STUDY ON CYCLIC STRAIN INDUCED CREEP, RELATIONSHIP BETWEEN DIFFERENT MODES OF STRESS AND STRAIN SUPERPOSITION
46. ACCUMULATION OF LONGITUDINAL STRAIN UNDER CYCLIC TORSION
47. The morphology of multilayer polymer crystals
48. SEASONAL MODULATION ANTIBODY FORMATION IN RAINBOW TROUT (SALMO GAIRDNERI)
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