167 results on '"Boelman, Cyrus"'
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2. Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children
3. Position Statement on the Use of Medical Cannabis for the Treatment of Epilepsy in Canada
4. Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
5. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
6. Rhythmic high-amplitude delta with superimposed spikes (RHADS): a treatment dilemma.
7. Precision Therapies in Neurodevelopmental Disorders: Update on Gene Therapies
8. Epilepsy in Legius syndrome: Coincidence or causation?
9. STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions
10. Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype
11. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
12. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
13. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
14. Expanding the genotype-phenotype spectrum in SCN8A-related disorders
15. Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
16. Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations
17. Spatial relationship between fast and slow components of ictal activities and interictal epileptiform discharges in epileptic spasms
18. O20: The natural history of Angelman syndrome: Sixteen years and 450 individuals later…*
19. Antithrombotic Therapy for Secondary Stroke Prevention in Bacterial Meningitis in Children
20. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
21. Prevalence of movement disorders secondary to novel anticonvulsant medications in pediatric populations: A systematic review protocol
22. Movement Disorders Secondary to Novel Antiseizure Medications in Pediatric Populations: A Systematic Review and Meta-analysis of Risk
23. Additional file 5 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
24. Additional file 6 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
25. Additional file 1 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
26. Additional file 9 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
27. sj-docx-1-jcn-10.1177_08830738221089742 - Supplemental material for Movement Disorders Secondary to Novel Antiseizure Medications in Pediatric Populations: A Systematic Review and Meta-analysis of Risk
28. Additional file 7 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
29. Additional file 8 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
30. Effect of Training on Visual Identification of High Frequency Oscillations—A Delphi-Style Intervention
31. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
32. ILAE Neuroimaging Task Force Highlight: harnessing optimized imaging protocols for drug-resistant childhood epilepsy
33. Interictal high frequency oscillations correlating with seizure outcome in patients with widespread epileptic networks in tuberous sclerosis complex
34. Preictal surrender of post–spike slow waves to spike-related high-frequency oscillations (80–200 Hz) is associated with seizure initiation
35. Pediatric Hyperacute Arterial Ischemic Stroke Pathways at Canadian Tertiary Care Hospitals
36. Rapid Implementation of Virtual Health in a Pediatric Neurology Practice During COVID-19
37. Pediatric Stroke Protocols in Canada (2851)
38. Statistical mapping analysis of lesion location and neurological disability in multiple sclerosis: application to 452 patient data sets
39. A Surprising Cause of Epilepsy: Whole Exome Sequencing in a Child With Focal Cortical Dysplasia Identifies Neurofibromatosis Type 2
40. Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children
41. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
42. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
43. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy
44. EEG of asymptomatic first‐degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta‐analysis
45. mTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report
46. Global characterization of copy number variants in epilepsy patients from whole genome sequencing
47. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
48. Global characterization of copy number variants in epilepsy patients from whole genome sequencing
49. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
50. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
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