244 results on '"Cotton, Richard G. H."'
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2. Detection of Mutations in DNA and RNA by Chemical Cleavage
3. The Human Variome Project
4. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
5. The Spectrum of Mutations in Dihydropteridine Reductase Deficiency
6. Modulation by ligands of the phosphorylation state of phenylalanine 4-monooxygenase in intact hepatocytes
7. Capture of Somatic mtDNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain
8. Call for participation in the neurogenetics consortium within the Human Variome Project
9. Human variome project country nodes: Documenting genetic information within a country
10. Correct Heteroduplex Formation for Mutation Detection Analysis
11. Mismatch Oxidation Assay: Detection of DNA Mutations Using a Standard UV/Vis Microplate Reader
12. The Chemical Cleavage of Mismatch for the Detection of Mutations in Long DNA Fragments
13. The Human Variome Project Beijing meeting
14. Guidelines for establishing locus specific databases
15. Rare disease registries and mutation/variation databases
16. Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients
17. A survey of locus-specific database curation
18. Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning
19. Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes
20. Phosphorylation and Activation of Tryptophan Hydroxylase by Exogenous Protein Kinase A
21. A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect
22. Pterins, Folates and Biogenic Amines in Neurology, Pediatrics and Immunology: Preface
23. CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene
24. Amplification and expression of phenylalanine hydroxylase in mouse erythroleukemia cells
25. Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants
26. Detection of Mutations in DNA and RNA by Chemical Cleavage
27. Chemical Methods for Mutation Detection: The Chemical Cleavage of Mismatch Method
28. The Use of Resolvases T4 Endonuclease VII and T7 Endonuclease I in Mutation Detection
29. Detection of Mutations in DNA by Solid-Phase Chemical Cleavage Method: A Simplified Assay
30. Guidelines for establishing locus specific databases
31. Mutation (variation) databases and registries: a rationale for coordination of efforts
32. Reducing the burden of inherited disease: the Human Variome Project
33. Enzymatic and Chemical Cleavage Methods to Identify Genetic Variation
34. A database of locus-specific databases
35. Capture of Somatic mt DNA Point Mutations with Severe Effects on Oxidative Phosphorylation in Synaptosome Cybrid Clones from Human Brain.
36. Scanning the Ocular Albinism 1 (OA1) Gene for Polymorphisms in Congenital Nystagmus by DHPLC
37. A call for mutations
38. Locus-specific databases: from ethical principles to practice
39. The challenge of documenting mutation across the genome: The human genome variation society approach
40. Spectroscopic study of permanganate oxidation reactions of oligonucleotides containing single base mismatches
41. Permanganate Oxidation Reactions of DNA: Perspective in Biological Studies
42. A higher-impactHuman Mutationlaunches web-based submission/peer review andEarlyView rapid publication
43. Phosphorylation and Activation of Tryptophan Hydroxylase by Exogenous Protein Kinase A
44. Alternative transcripts of presenilin-1 associated with frontotemporal dementia
45. Detection of Mutations in DNA by Solid-Phase Chemical Cleavage Method.
46. In memoriam
47. The Use of Resolvases T4 Endonuclease VII and T7 Endonuclease I in Mutation Detection.
48. Genotype and Intellectual Phenotype in Untreated Phenylketonuria Patients
49. Mutation detection using fluorescent enzyme mismatch cleavage with T4 endonuclease VII
50. Mutation Detection and Mutation Databases
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