13 results on '"Lichter-Konecki, Uta"'
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2. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
3. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy
4. Phenylketonuria: Current Treatments and Future Developments
5. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
6. New in Newborn Screening
7. DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles
8. The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
9. The phenylketonuria G272X haplotype 7 mutation in European populations
10. Haplotype distribution and mutations at the PAH locus in Croatia
11. RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene
12. Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population
13. DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population
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