277 results on '"Koeleman, Bobby P.C."'
Search Results
2. Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
3. Climate change and epilepsy: Insights from clinical and basic science studies
4. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
5. GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
6. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
7. Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy
8. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
9. Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function
10. Outcomes and comorbidities of SCN1A-related seizure disorders
11. What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?
12. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
13. Corrigendum to ‘Oral microbiota analyses of Saudi sickle cell anemics with dental caries’ International Dental Journal, 73/1, February 2023, Pages 144-150
14. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
15. Oral microbiota analyses of Saudi sickle cell anemics with dental caries
16. Identification of candidate genes for developmental colour agnosia in a single unique family
17. Clinical and genetic analysis of a family with two rare reflex epilepsies
18. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility
19. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
20. Consensus on diagnosis and management of JME: From founder's observations to current trends
21. Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy
22. The quest for Juvenile Myoclonic Epilepsy genes
23. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
24. Efficient and accurate prime editing strategy to correct genetic alterations in hiPSC using single EF-1alpha driven all-in-one plasmids
25. Genetic and Functional Differences between Duplicated Zebrafish Genes for Human SCN1A
26. Association of IL-2RA/CD25 with type 1 diabetes in the Belgian population
27. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
28. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
29. Identification of candidate genes for developmental colour agnosia in a single unique family
30. CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity
31. Genetic polymorphisms in susceptibility to Type 1 Diabetes
32. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
33. A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy
34. GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
35. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
36. TNFa microsatellite polymorphism modulates the risk of type 1 diabetes in the Belgian population, independent of HLA-DQ
37. MYO9B gene polymorphisms are associated with autoimmune diseases in Spanish population
38. MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes: An association and meta-analysis
39. Climate change and epilepsy: Insights from clinical and basic science studies
40. Efficient computation of significance levels for multiple associations in large studies of correlated data, including genomewide association studies
41. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
42. MICA is Associated with Type 1 Diabetes in the Belgian Population, Independent of HLA-DQ
43. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
44. Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up
45. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
46. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy
47. Assocation of variation in Fc(gamma) receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples
48. The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases
49. Analysis of a Functional BTNL2 Polymorphism in Type 1 Diabetes, Rheumatoid Arthritis, and Systemic Lupus Erythematosus
50. HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert–Eaton myasthenic syndrome
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