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364 results on '"Atsushi Fujita"'

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1. Innovative use of a stent retriever for temporary revascularization in acute internal carotid artery dissection

2. Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant

3. Bailout using NBCA for incomplete onyx embolization of tentorial dural arteriovenous fistula

4. Direct carotid-cavernous fistula presenting with intracranial hemorrhage without ocular symptoms

5. Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report

6. Choledochoduodenostomy combined with Billroth II procedure for extrahepatic biliary obstruction and duodenal perforation in a cat

7. Bladder Reconstruction in Cats Using In-Body Tissue Architecture (iBTA)-Induced Biosheet

8. A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association

9. Synchronous heart rate reduction with suppression‐burst pattern in KCNT1‐related developmental and epileptic encephalopathies

10. An integrated genetic analysis of epileptogenic brain malformed lesions

11. Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

12. Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma

13. A novel NONO variant that causes developmental delay and cardiac phenotypes

14. Distal 2q duplication in a patient with intellectual disability

15. Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

16. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan

17. Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes

18. Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling

19. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

20. Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions

21. Sirolimus for epileptic seizures associated with focal cortical dysplasia type II

22. Ostial common carotid artery occlusion and balloon-mounted stenting: Implication of embolic protection device in tandem lesion

23. Morphometric and histomorphometric evaluations of high-purity macro/microporous beta-tricalcium phosphate in maxillary sinus floor elevation: preliminary results on a retrospective, multi-center, observational study

24. A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

25. Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes

26. Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

27. Clinical characteristics, treatment methods and prognoses of patients with oral squamous cell carcinoma in Japanese population: a single institution retrospective cohort study

28. Proton magnetic resonance spectroscopy of lung cancer in vivo

29. Transvenous embolization through the ipsilateral deep facial vein: A novel approach route for treatment of a cavernous sinus dural arteriovenous fistula

30. Transarterial Onyx embolization with targeted balloon-assisted sinus protection for treatment of dural arteriovenous fistula of the lateral tentorial sinus

31. Microcatheter injection reduces the amount of contrast medium during middle cerebral artery aneurysm embolization in a patient with chronic kidney disease

32. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

33. Correlations of mRNA Levels among Efflux Transporters, Transcriptional Regulators, and Scaffold Proteins in Non-Small-Cell Lung Cancer

34. Connexin 30 deficiency attenuates A2 astrocyte responses and induces severe neurodegeneration in a 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine hydrochloride Parkinson’s disease animal model

35. Serum-free Erythroid Differentiation for Efficient Genetic Modification and High-Level Adult Hemoglobin Production

36. Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry

37. Connexin 30 Deficiency Attenuates Chronic but Not Acute Phases of Experimental Autoimmune Encephalomyelitis Through Induction of Neuroprotective Microglia

39. Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.

41. Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans

43. Three <scp>KINSSHIP</scp> syndrome patients with mosaic and germline <scp> AFF3 </scp> variants

45. Successful shrinkage of a recurrent partially thrombosed symptomatic large basilar tip aneurysm using a Target 3D Coil.

46. Steerable microcatheter for distal access of a giant cavernous carotid artery aneurysm during treatment with Pipeline Embolization Device: A case report and review of the literature.

47. Contribution of Endoplasmic Reticulum Stress to the Clinical Instability of Carotid Plaques in Human Carotid Stenosis

48. Monogenic causes of pigmentary mosaicism

49. Molecular diagnosis of 405 individuals with autism spectrum disorder

50. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia

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