246 results on '"Damiano, John A"'
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2. Contribution of rare genetic variants to drug response in absence epilepsy
3. Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy
4. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
5. Data Driven Decision Making: A Machine-Vision Approach to Real-Time Data Collection and Analysis for Transmission Electron Microscopy
6. Machine Vision Software Enables Normalization of Electron Dose Calibration Between Microscopes and Delivers Accurate Quantifiable Tracking of Electron Dose for In-Situ, Operando, and Dose Sensitive Experiments
7. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy
8. SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood
9. Development of a rapid functional assay that predicts GLUT1 disease severity
10. Recognition and Epileptology of Protracted CLN3 Disease
11. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
12. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
13. AXON: An In-situ TEM Software Platform Streamlines Image Acquisition, Metadata Synchronization and Data Analysis, Enabling Deeper Understanding, and Improved Reproducibility of In-situ Experimental Results
14. AXON Dose: A Machine Vision Solution for Accurate, Quantifiable Dose Management in the Transmission Electron Microscope
15. AXON Dose: A Solution for Measuring and Managing Electron Dose in the TEM
16. Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy
17. Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes
18. Genetic epilepsy with febrile seizures plus: Refining the spectrum
19. Frequency of CNKSR2 mutation in the X‐linked epilepsy‐aphasia spectrum
20. De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome
21. Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
22. Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes
23. Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes
24. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia
25. Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role
26. Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline
27. Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
28. Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
29. SOI CMOS implementation of a multirate PSK demodulator for space communications
30. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
31. Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes
32. Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy
33. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria
34. Recent advances in the molecular genetics of epilepsy
35. Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
36. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
37. Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy
38. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
39. SCN1A Variants in vaccine‐related febrile seizures: A prospective study
40. Does variation in NIPA2 contribute to genetic generalized epilepsy?
41. Customizable Cryo-EM Chips Improve 3D Analysis of Macromolecules
42. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
43. Cryo‐Electron Microscopy: Cryo‐EM‐On‐a‐Chip: Custom‐Designed Substrates for the 3D Analysis of Macromolecules (Small 21/2019)
44. Cryo‐EM‐On‐a‐Chip: Custom‐Designed Substrates for the 3D Analysis of Macromolecules
45. Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features
46. Evaluation of GLUT1 variation in non-acquired focal epilepsy
47. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
48. Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
49. SCN1A Variants in vaccine-related febrile seizures: A prospective study.
50. Optimization of Liquid Cell Transmission Electron Microscopy for Energy Dispersive X-Ray Spectroscopy
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