174 results on '"Negishi, Yutaka"'
Search Results
2. A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation
3. Trained immunity suppression determines kidney allograft survival
4. A nationwide survey of Vici syndrome in Japan
5. Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients
6. Trained immunity is regulated by T cell-induced CD40-TRAF6 signaling
7. Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study
8. A nationwide survey of Schaaf-Yang syndrome in Japan
9. Risks of ACTH therapy for West syndrome following BCG vaccination
10. Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study
11. A chromatin-regulated biphasic circuit coordinates IL-1β-mediated inflammation
12. Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood
13. Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
14. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome
15. Chestnut goby, Gymnogobius castaneus (O’Shaughnessy 1875), as a suitable host of Anemina arcaeformis (Heude 1877) in floodplain water bodies, Hokkaido, Northern Japan
16. Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing
17. A novel CUL4B splice site variant in a young male exhibiting less pronounced features
18. A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
19. Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate
20. CTCF deletion syndrome: clinical features and epigenetic delineation
21. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate
22. Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome
23. Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability
24. Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant
25. Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells
26. SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation
27. Two patients with acute rotavirus encephalitis associated with cerebellar signs and symptoms
28. Fulminant Encephalopathy with Marked Brain Edema and Bilateral Thalamic Lesions
29. An atlas of active enhancers across human cell types and tissues
30. Immune Regulation in Time and Space: The Role of Local- and Long-Range Genomic Interactions in Regulating Immune Responses
31. Perinatal Cytomegalovirus-Associated Bullae in an Immunocompetent Infant
32. BCG Vaccination Induces Long-Term Functional Reprogramming of Human Neutrophils
33. Lacosamide for children with paroxysmal kinesigenic dyskinesia
34. Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
35. Pinpointing Cell Identity in Time and Space
36. COVID-19: A model correlating BCG vaccination to protection from mortality implicates trained immunity
37. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy
38. MYCNde novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
39. A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia
40. A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever
41. Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum
42. CTCFdeletion syndrome: clinical features and epigenetic delineation
43. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
44. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
45. Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism
46. An atlas of active enhancers across human cell types and tissues
47. Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability
48. Novel splicing mutation in theASXL3gene causing Bainbridge-Ropers syndrome
49. MYCNde novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
50. Identification of chromatin marks at TERRA promoter and encoding region
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