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Your search keyword '"Koeleman, Bobby P.C."' showing total 277 results

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277 results on '"Koeleman, Bobby P.C."'

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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

6. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

8. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

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

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

20. Consensus on diagnosis and management of JME: From founder's observations to current trends

23. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

25. Genetic and Functional Differences between Duplicated Zebrafish Genes for Human SCN1A

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

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

39. Climate change and epilepsy: Insights from clinical and basic science studies

41. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

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

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

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