367 results on '"Kølvraa S"'
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2. Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing*
3. Localisation of the classical DNA satellites on human chromosomes as determined by primed in situ labelling (PRINS)
4. Simultaneous detection of centromere-specific probes and chromosome painting libraries by a combination of primedin situ labelling and chromosome painting (PRINS-painting)
5. The Pattern of Chromosome-Specific Variations in Telomere Length in Humans Shows Signs of Heritability and Is Maintained through Life
6. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA
7. Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
8. Session 56 – Reproductive genetics: O-220 Sequential FISH cycles using peptide nucleic acid probes in combination with competitive displacement of labeled probe allows for up to five consecutive cycles in human embryos
9. Sequential fluorescence in situ hybridization analysis using competitive displacement of labeled peptide nucleic acid probes for 8 chromosomes in human blastomeres: Free communication 9
10. Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres
11. Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G → A splice site mutation in the low-density lipoprotein receptor gene
12. Primed IN Situ labelling (PRINS) as a rational procedure for identification of marker chromosomes using a panel of primers differentially tagging the human chromosomes
13. Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency
14. Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia
15. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II
16. In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia
17. Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells
18. Osteoclast nuclei of myeloma patients show chromosome translocations specific for the myeloma cell clone: a new type of cancer-host partnership?:a new type of cancer-host partnership?
19. Metabolic Effects of Carnitine Medication in a Patient with Multiple Acyl-CoA Dehydrogenation Deficiency
20. Medium Chain Acyl-CoA Dehydrogenase Deficiency: Apparent K m and V max Values for Fibroblast Acyl-CoA Dehydrogenase towards Octanoyl CoA in Patient and Control Cell Lines
21. Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects
22. Keratoacanthomas frequently show chromosomal aberrations as assessed by comparative genomic hybridization (CGH)
23. Præimplantationsdiagnostik - en MTV analyse
24. FISH techniques, FISH probes and their applications in medicine and biology - an overview
25. A strategy combining flow sorting and comparative genomic hybridization for studying genetic aberrations at different stages of colorectal tumorigenesis in ulcerative colitis
26. Preimplantation genetic diagnosis. The first experiences in Denmark
27. Primed in situ labelling
28. Præimplantationsdiagnostik:De første erfaringer i Danmark
29. Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes
30. Lipid-binding proteins modulate ligand-depending trans-activation by peroxisome proliferator-activated receptors and localize to the nucleus as well as the cytoplasm
31. A polymorphic variant in the human electron transfer flavoprotein α-chain (αT171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mildchildhood presentation
32. Klinisk genetik:Et nyt tværgående grundspeciale
33. Telomer-ender og telomerase/det biologiske ældningsur?
34. Studies on the isolation and identification of fetal nucleated red blood cells in the circulation of pregnant women before and after chorion villus sampling.
35. A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein
36. O606 OVERNIGHT CHANGES IN THE NUMBER OF FETAL CELLS IN MATERNAL BLOOD
37. Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells
38. A flow cytometric competition technique for measuring interaction of LDL with cellular LDL-receptors applied to patients with mutant (Arg3500-->Gln) apolipoprotein B
39. Breast cancer after bilateral risk-reducing mastectomy
40. Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis:evidence for post-translational modification of the enzyme
41. Reverse chromosome painting
42. Primed in situ (PRINS) labeling of DNA
43. Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
44. Primed in situ (PRINS) labeling of RNA
45. P04.05: Physical exercise decreases the number of fetal cells in maternal blood
46. Molecular cytogenetics:applications in clinical genetics
47. Molecular biology from bench-to-bedside: Which colorectal cancer patients to refer for genetic counseling
48. Nonradioactive, sequence-specific detection of RNA in situ by primed in situ labeling (PRINS)
49. Osteoclast nuclei of myeloma patients show chromosome translocations specific for the myeloma cell clone: a new type of cancer–host partnership?
50. Chromosomal imbalances mapped by array-based comparative genomic hybridization in an integrated approach to combat breast cancer in Denmark
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