182 results on '"Felbor, U."'
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2. Evaluation einer transsektoralen digitalen Versorgungsplattform für Personen mit familiärem Krebsrisiko - dVP_FAM: ein Studienprotokoll
3. Long-term outcome and quality of life after Cavernoma resection: Eloquent vs. Non-Eloquent areas
4. Milde Blutungsneigung bei einer 62-Jährigen mit hereditärer Thrombozytopenie
5. 35 Jahre Greifswalder Institut für Humangenetik: 35th anniversary of the Greifswald Institute for Human Genetics
6. Neue CCM1-Mutation bei einem 2-Jährigen: Zerebrale und kutane Manifestationen der familiären Kavernomatose
7. Large germline deletions and duplication in isolated cerebral cavernous malformation patients
8. Postzygotic mosaicism in cerebral cavernous malformation
9. Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes
10. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
11. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
12. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
13. Thrombocytopenia Related to Defects in Platelet Cytoskeleton Regulation Genes
14. Genetik zerebraler kavernöser Gefäßmalformationen
15. T-24-08: A novel, homozygous mutation in GFI1B causing inherited thrombocytopenia with Glanzmann-like platelet dysfunction.
16. Familiäre Kavernome in einer großen hessischen Familie mit neuer Mutation im CCM1-Gen
17. FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations
18. BOD1 Is Required for Cognitive Function in Humans and Drosophila
19. Supplementary Material for: FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations
20. The multiple faces of multiple cerebral cavernous malformations: Findings of molecular analysis and 7T SWI
21. Loss of CCM3 activated angiogenesis through impairing endothelial Dll4-Notch signalling: implication in familial cerebral cavernous malformation
22. Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas
23. Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene
24. Multiple Test-Techniken erhöhen die CCM-Mutations-Detektionsrate. Große klinische Variabilität in einem deutschen Stammbaum bei Verlust des gesamten CCM1-Gens
25. Genetik zerebraler Kavernome
26. Management of Cerebral Cavernous Malformations: Molecular Insight and Clinical Considerations
27. Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein
28. Multiple Screening techniques increase CCM mutation detection rate. Wide clinical variability in a German pedigree due to a deletion of the entire CCM1
29. Genetics of cerebral cavernomas
30. Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes
31. Familiäre Kavernome in einer großen hessischen Familie mit neuer Mutation im CCM1-Gen
32. Genetics of Cerebral Cavernous Angioma
33. Endostatin's heparan sulfate-binding site is essential for inhibition of angiogenesis and enhances in situ binding to capillary-like structures in bone explants
34. The rare human fragile site 16B
35. Secreted cathepsin L generates endostatin from collagen XVIII
36. Allelic heterogeneity of alkaptonuria in Central Europe
37. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
38. Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).
39. Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies
40. A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
41. Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)
42. Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies
43. Congenital macrothrombocytopenia associated with a combination of functional polymorphisms in the TUBB1 gene
44. Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation.
45. Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies.
46. Generation and degradation of human endostatin proteins by various proteinases
47. Controversial molecular classification of human cerebrovascular malformations.
48. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies
49. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance
50. Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
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