79 results on '"Verlind, E"'
Search Results
2. Prognostic significance of K-ras andTP53 mutations in the role of adjuvant chemotherapy on survival in patients with dukes C colon cancer
3. Identification of crossovers in Wilson disease families as reference points for a genetic localization of the gene
4. Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
5. RFP2, c13ORF1, and FAM10A4 are the most likely tumor suppressor gene candidates for B-cell chronic lymphocytic leukemia
6. Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense
7. Three novel KCNA1 mutations in episodic ataxia type I families
8. A role of MLH3 in hereditary nonpolyposis colorectal cancer
9. A new family with a mutation in exon 2 of COL2A1 and Stickler syndrome without systemic manifestations
10. Germline hMLH3 mutations in patients with suspected HNPCC
11. A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND
12. X-linked hydrocephalus: Another two families with an L1 mutation
13. High frequency of TP53 mutations in juvenile pilocytic astrocytomas indicates role of TP53 in the development of these tumors
14. Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online
15. A yeast artificial chromosome contig that spans the RB1-D13S31 interval on human chromosome 13 and encompasses the frequently deleted region in B-cell chronic lymphocytic leukemia
16. A highly informative dinocleotide repeat polymorphism at D1 3S201, between RB1 and WND
17. AN INTEGRATED MAP OF HUMAN-CHROMOSOME-13 ALLOWING REGIONAL LOCALIZATION OF GENETIC-MARKERS
18. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
19. The EUROGEM map of human chromosome 13
20. Prognostic significance of K- ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with dukes C colon cancer
21. Dukes'C colon cancer after adjuvant treatment: can KRAS and PT 53 mutations serve as prognostic indicators?
22. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome
23. Verification strategy of the CATHEDRAL-I silicon compiler based on the SFG-tracing methodology.
24. Application example of multi-level digital design verification by the SFG-tracing methodology.
25. Partial strength ordering applied to symbolic switch-level analysis.
26. Automatic formal verification of Cathedral-II circuits from transistor switch level implementation up to high level behavioral specifications by the SFG-tracing methodology.
27. Illustration of the SFG-tracing multi-level behavioral verification methodology, by the correctness proof of a high to low level synthesis application in Cathedral-II.
28. Efficient partial enumeration for timing analysis of asynchronous systems.
29. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
30. RAPID SCREENING FOR DELTA-F508 DELETION IN CYSTIC-FIBROSIS
31. Prognostic significance of K-ras and TP53 mutations in the role of adjuvant chemotherapy on survival in patients with Dukes C colon cancer
32. New comprehensive denaturing-gradient-gel-electrophoresis assay for KRAS mutation detection applied to paraffin-embedded tumours
33. X-linked hydrocephalus: another two families with an L1 mutation
34. Efficient partial enumeration for timing analysis of asynchronous systems
35. X-linked hydrocephalus: another two families with an L1 mutation.
36. X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.
37. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
38. A role for MLH3 in hereditary nonpolyposis colorectal cancer.
39. Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.
40. New comprehensive denaturing-gradient-gel- electrophoresis assay for KRAS mutation detection applied to paraffin-embedded tumours.
41. Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.
42. Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
43. Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.
44. High frequency of TP53 mutations in juvenile pilocytic astrocytomas indicates role of TP53 in the development of these tumors.
45. Comprehensive TP53-denaturing gradient gel electrophoresis mutation detection assay also applicable to archival paraffin-embedded tissue.
46. Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
47. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.
48. A yeast artificial chromosome contig that spans the RB1-D13S31 interval on human chromosome 13 and encompasses the frequently deleted region in B-cell chronic lymphocytic leukemia.
49. An integrated map of human chromosome 13 allowing regional localization of genetic markers.
50. A deletion hybrid breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals.
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