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34 results on '"Luthman H"'

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1. Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.

3. Efficient Double-Quantum Excitation in Rotational Resonance NMR

4. Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation

5. 35th Annual Meeting of the European Association for the Study of Diabetes

7. Multilevel regulation of low-density lipoprotein receptor and 3-hydroxy- 3-methylglutaryl coenzyme A reductase gene expression in normal and leukemic cells

9. Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.

10. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

11. Quantitative determination of mdr1 gene expression in leukaemic cells from patients with acute leukaemia

13. Effect of growth hormone treatment on insulin action in adipocytes from children with Prader-Willi syndrome

14. Phenotypic characterization of the Trp64Arg polymorphism in the beta3-adrenergic receptor gene in normal weight and obese subjects

15. DNA polymorphisms in the human tyrosine hydroxylase/insulin/ insulin-like growth factor II chromosomal region in relation to glucose and insulin responses

17. Regulation of Human Insulin Receptor RNA Splicing in HepG2 Cells: Effects of Glucocorticoid and Low Glucose Concentration

18. Physiological and genetic characterization of the Gly40Ser mutation in the glucagon receptor gene in the Sardinian population

19. Regulation of human insulin receptor RNA splicing in vivo.

20. Screening for insulin receptor gene DNA polymorphisms associated with glucose intolerance in a Scandinavian population

21. Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.

23. Glucagon receptor Gly40Ser amino acid variant in Sardinian hypertensive non-insulin-dependent diabetic patients

30. MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE

33. DNA HYBRIDIZATION ANALYSIS OF 21-HYDROXYLASE DEFICIENCY

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