121 results on '"Kumagai, Toshiyuki"'
Search Results
2. Early immunological responses to the mRNA SARS-CoV-2 vaccine in patients with neuromuscular disorders
3. SIL1, a causative cochaperone gene of Marinesco‐Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
4. Development of Visuospatial Ability and Kanji Copying in Williams Syndrome
5. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy
6. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2
7. Aneuploidy and Intellectual Disability
8. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
9. Administration of nusinersen via paramedian approach for spinal muscular atrophy
10. Nonsense and frameshift mutations in ZFHX1B, encoding smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features
11. Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)
12. Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)
13. Observations of muscle plasma membrane undercoats in Duchenne and fukuyama muscula dystrophies: An electron microscopic study
14. Reduced Aquaporin 4 Expression in the Muscle Plasma Membrane of Patients With Duchenne Muscular Dystrophy
15. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
16. Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD
17. 小児期の近位型脊髄性筋萎縮症の臨床像と分子遺伝学的診断
18. Glomerulocystic Kidney Associated With Subacute Necrotizing-Encephalomyelopathy
19. Mutations inHADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy
20. SIL1, a causative cochaperone gene of M arinesco‐ S jögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
21. Phenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly
22. Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD
23. Age‐related changes in BDNF protein levels in human serum: differences between autism cases and normal controls
24. Williams syndrome and deficiency in visuospatial recognition
25. Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome
26. Three Infant Cases of Smad Interacting Protein 1 (SIP1) Abnormalities with Epilepsy
27. Williams syndrome and deficiency in visuospatial recognition
28. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #443 (2001) Online http://journals.wiley.com/1059-7794/pdf/mutation/443.pdf
29. Altered distribution of β‐Dystroglycan in sarcolemma of human dystrophic muscles: An immunohistochemical study
30. EARLY RETINAL INVOLVEMENT IN MITOCHONDRIAL MYOPATHY WITH MITOCHONDRIAL DNA DELETION
31. Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy
32. Magnetic resonance imaging and positron emission tomography of band heterotopia
33. Epilepsies of Neonatal Onset
34. Epilepsy in Angelman Syndrome Associated with Chromosome 15q Deletion
35. Immunoreactivity of Antibodies Raised Against Synthetic Peptide Fragments Predicted from Cysteine-rich and Carboxy-terminal Domains of Dystrophin cDNA
36. Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA
37. Novel mutations and genotype-phenotype relationship in 107 families with Fukuyama-type congential muscular dystrophy (FCMD).
38. Freeze-fracture studies of muscle plasma membrane in Fukuyama-type congenital muscular dystrophy.
39. Duchenne dystrophy.
40. Freezefracture studies of muscle plasma membrane in Fukuyamatype congenital muscular dystrophy
41. TRH Therapy for West Syndrome.
42. Peripheral neuropathy in Marinesco-Sjögren syndrome
43. Body movements during sleep in full-term newborn infants
44. A case of complex partial status epilepticus: Serial EEGs and clinical symptom changes.
45. Quantitative freeze-fracture electron microscopic study of muscle plasma membrane of experimental anoxic myopathy
46. Factors Influencing Effectiveness of Thyrotropin‐Releasing Hormone Therapy for Severe Epilepsy in Childhood: Significance of Serum Prolactin Levels
47. Long‐Term Prognosis of Lennox‐Gastaut Syndrome
48. Long-term prognosis of tuberous sclerosis with epilepsy in children
49. Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease
50. Dystrophin immunostaining and freeze-fracture studies of muscles of patients with early stage amyotrophic lateral sclerosis and Duchenne muscular dystrophy
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