161 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. GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
5. Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function
6. Corrigendum to ‘Oral microbiota analyses of Saudi sickle cell anemics with dental caries’ International Dental Journal, 73/1, February 2023, Pages 144-150
7. Clinical and genetic analysis of a family with two rare reflex epilepsies
8. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
9. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
10. Efficient and accurate prime editing strategy to correct genetic alterations in hiPSC using single EF-1alpha driven all-in-one plasmids
11. Identification of candidate genes for developmental colour agnosia in a single unique family
12. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
13. CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity
14. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
15. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
16. A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy
17. Genetic polymorphisms in susceptibility to Type 1 Diabetes
18. Climate change and epilepsy: Insights from clinical and basic science studies
19. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
20. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci
21. A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease
22. Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
23. MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes: An association and meta-analysis
24. Efficient computation of significance levels for multiple associations in large studies of correlated data, including genomewide association studies
25. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
26. Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up
27. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
28. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
29. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy
30. Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy
31. Assocation of variation in Fc(gamma) receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples
32. The TRAF1-C5 region on chromosome 9q33 is associated with multiple autoimmune diseases
33. HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert–Eaton myasthenic syndrome
34. False negative replication of disease associations can be caused by differences in marker allele frequencies between study populations
35. Association analysis of functional variants of the FcgRIIa and FcgRIIIa genes with type 1 diabetes, celiac disease and rheumatoid arthritis
36. Association Analysis of BRD2 (RING3) and Epilepsy in a Dutch Population
37. Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations in the EFHC1 Gene in Linked Dutch Families
38. Identification of TUB as a Novel Candidate Gene Influencing Body Weight in Humans
39. Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13
40. KIR in Type 1 Diabetes: Disparate Distribution of Activating and Inhibitory Natural Killer Cell Receptors in Patients Versus HLA-Matched Control Subjects
41. Mutation in blood coagulation factor V associated with resistance to activated protein C
42. The HLA-DPB1-Associated Component of the IDDM1 and Its Relationship to the Major Loci HLA-DQB1, -DQA1, and -DRB1
43. Delineating the GRIN1 phenotypic spectrum
44. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
45. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
46. Outcomes and comorbidities of SCN1A-related seizure disorders
47. EXtrACtor, a tool for multiple queries and data extractions from the EXAC and gnomAD database
48. Polymorphism of the inducible nitric oxide synthase gene in celiac disease
49. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
50. Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy
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