281 results on '"Yamasaki Mami"'
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2. Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus
3. Long term prognosis of fetal hydrocephalus
4. X-Linked Hydrocephalus
5. Understanding Hydrocephalus: Genetic View
6. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome
7. Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors
8. Drifting algae and fish: Implications of tropical Sargassum invasion due to ocean warming in western Japan
9. Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate
10. X-Linked Hydrocephalus
11. IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
12. Siblings with optic neuropathy and RTN4IP1 mutation
13. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate
14. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology
15. Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability
16. Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3
17. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene
18. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I
19. Image cytometry for analyzing regional distribution of cells inside human neurospheres
20. Inhibition of Glioma Cell Proliferation by Neural Stem Cell Factor
21. Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM
22. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
23. D2-40 antibody immunoreactivity in developing human brain, brain tumors and cultured neural cells
24. Intracranial hemorrhage after intra-arterial administration of fasudil for treatment of cerebral vasospasm following subarachnoid hemorrhage: a serious adverse event
25. Detection of Transient Increase of Cerebral Blood Flow and Reversible Neuronal Dysfunction by Iodine-123-Iomazenil Single Photon Emission Computed Tomography After Cerebral Hyperperfusion Syndrome After Revascularization Surgery for Moyamoya Disease
26. Effects of heparin and its 6- O-and 2- O-desulfated derivatives with low anticoagulant activity on proliferation of human neural stem/progenitor cells
27. A new mutation of the L1CAM gene in an X-linked hydrocephalus family
28. First case of L1CAM gene mutation identified in MASA syndrome in Asia
29. Musashi1, an evolutionarily conserved neural RNA-binding protein, is a versatile marker of human glioma cells in determining their cellular origin, malignancy, and proliferative activity
30. Expression of Tubulin Beta II in Neural Stem/Progenitor Cells and Radial Fibers During Human Fetal Brain Development
31. Additional file 12: of Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors
32. A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination
33. Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
34. Generation of Induced Pluripotent Stem Cells and Neural Stem/Progenitor Cells from Newborns with Spina Bifida Aperta
35. Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing ( gcm) gene
36. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft
37. Additional file 10: of In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations
38. Additional file 1: Table S1. of In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations
39. ATIM-22. ADOPTIVE IMMUNOTHERAPY USING LYMPHOKINE-ACTIVATED αβ T-CELLS IMPROVES TEMOZOLOMIDE-INDUCED LYMPHOPENIA IN PATIENTS WITH GLIOMA
40. Visualization of migration of human cortical neurons generated from induced pluripotent stem cells
41. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
42. Novel MCA/ID syndrome with ASH1L mutation
43. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
44. Long Term Outcome of Prenatally Diagnosed Neurosurgical Diseases
45. Life and Medical Ethics in Pediatric Neurosurgery
46. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft
47. Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability
48. MPTH-14. MOLECULAR CLASSIFICATION AND CLINICAL CHARACTERISTICS OF MEDULLOBLASTOMAS IN JAPAN
49. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy
50. In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations
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