139 results on '"Oyen F"'
Search Results
2. Isolated molecular Defects of von Willebrand Factor Binding to Collagen do not correlate with Bleeding Symptoms
3. Glial papillary tumour of the spinal cord with SMARCB1/INI1‐loss and favourable long‐term outcome
4. Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population
5. An Alu‐mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary
6. Genetic defects in von Willebrand disease type 3 in Indian and Greek patients
7. Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease
8. BRG1 & CRINET: two exceptions to the equation AT/RT = inactivation of INI1
9. Genetic alterations of SMARCA4 in atypical teratoid/rhabdoid tumours (AT/RT) are associated with higher frequency of germ line alterations and shorter survival as compared to SMARCB1 deficient AT/RT
10. Detection of SMARCB1 loss in ascites cells in the diagnosis of an abdominal rhabdoid tumor
11. Rapid diagnosis of an AT/RT by the detection of a heterozygous SMARCB1 germ line deletion in an infant
12. A common 253‐kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3
13. Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations
14. Characterisation of the deletion breakpoints in patients with severe haemophilia A: large deletions and inhibitors: 21P22
15. Isolated Molecular Defects of von Willebrand Factor Binding to Collagen do not correlate with Bleeding Symptoms
16. Spectrum of genetic defects in severe von Willebrand disease type 3: 17 PO 506
17. Spectrum of genetic defects in severe Von Willebrand Disease type 3 in Indians: 17 FP 485
18. Gene conversions are a common cause of von Willebrand disease
19. Deciphering the AT/RT ligandome
20. Hybrid neurofibroma / schwannoma – a molecular study
21. ATYPICAL TERATOID RHABDOID TUMOUR
22. Identifying Molecular Markers for the Sensitive Detection of Residual AT/RT Cells
23. Germlinede novomutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease
24. Vol ambities terugtreden
25. Thrombotische Mikroangiopathie bei einem 17-jährigen Patienten: TTP, HUS oder etwas von beidem?
26. The problem of novel FVIII missense mutations for haemophilia A genetic counseling
27. Response to DDAVP in children with von Willebrand disease type 2
28. Characterisation of the deletion breakpoints in two patients with severe haemophilia A, large deletions and inhibitors
29. Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both?
30. P061 Type 3 von Willebrand disease in Hungary: A partial large deletion is the most common genetic defect
31. Common large partial VWFgene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population
32. Impact of acidification and eutrophication on the distribution of fish species in shallow and lentic soft waters of The Netherlands: an historical perspective.
33. Biology of the acid-tolerant fish species Umbra pygmaea (De Kay, 1842).
34. Response to DDAVP in children with von Willebrand disease type 2
35. A common 253‐kb deletion involving VWFand TMEM16Bin German and Italian patients with severe von Willebrand disease type 3
36. Dietary lipid composition affects blood leucocyte fatty acid compositions and plasma eicosanoid concentrations in European sea bass (Dicentrarchus labrax)
37. Development of broodstock diets for the European Sea Bass (Dicentrarchus labrax) with special emphasis on the importance of n-3 and n-6 highly unsaturated fatty acid to reproductive performance
38. The toxicity of chloroform as determined by single and repeated exposure of laboratory animals
39. The toxicity of 1,3-dichloropropene as determined by repeated exposure of laboratory animals
40. The problem of novel FVIII missense mutations for haemophilia A genetic counseling
41. Characterisation of the deletion breakpoints in two patients with severe haemophilia A, large deletions and inhibitors
42. The Toxicity of Chloroform as Determined by Single and Repeated Exposure of Laboratory Animals.
43. Sellar region atypical teratoid/rhabdoid tumors (ATRT) in adults display DNA methylation profiles of the ATRT-MYC subgroup
44. Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults
45. Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis
46. Lack of SMARCB1 expression characterizes a subset of human and murine peripheral T-cell lymphomas.
47. Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.
48. The search for the underlying mutations causing VWD in 13 Venezuelan families.
49. Natural and cryptic peptides dominate the immunopeptidome of atypical teratoid rhabdoid tumors.
50. Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6.
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