Veröffentlichungen zu Konecki, D. S. von Konecki, D. S.[x] | |||
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Konecki, D. S., Schweitzer-Krantz, S., ... |
Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis in: European journal of pediatrics , ISSN 1432-1076, Vol. 152 (12. 1993), p. 1048-1049 Zugang: zum Volltext ähnliche Vorschläge |
1993 |
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Barić, I., Mardešić, D., ... |
Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 17 (3. 1994), p. 376-377 Zugang: zum Volltext ähnliche Vorschläge |
1994 |
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Lichter-Konecki, U., schlotter, M., ... |
Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany in: European journal of pediatrics , ISSN 1432-1076, Vol. 149 (2. 1989), p. 120-123 Zugang: zum Volltext ähnliche Vorschläge |
1989 |
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Konecki, D. S., Schlotter, M., ... |
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria in: Human genetics Zugang: zum Volltext ähnliche Vorschläge |
1991 |
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Lichter-Konecki, U., Rupp, A., ... |
Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders in: Journal of inherited metabolic disease , ISSN 1573-2665, ZDB-ID 2006875X Vol. 17 (3. 1994), p. 362-365 Zugang: zum Volltext ähnliche Vorschläge |
1994 |
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Burgard, P., Rupp, A., ... |
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria in: European journal of pediatrics , ISSN 1432-1076, Vol. 155 (1. 1996), p. S11 Zugang: zum Volltext ähnliche Vorschläge |
1996 |
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Sedlacek, Z., Konecki, D. S., ... |
Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI) in: Mammalian genome , ISSN 1432-1777, Vol. 5 (10. 1994), p. 633-639 Zugang: zum Volltext ähnliche Vorschläge |
1994 |
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Krawczak, M., Konecki, D. S., ... |
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German families in: Human genetics Zugang: zum Volltext ähnliche Vorschläge |
1988 |
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Bender, C., Büchler, A., ... |
Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe in: European journal of pediatrics , ISSN 1432-1076, Vol. 153 (6. 1994), p. 468-468 Zugang: zum Volltext ähnliche Vorschläge |
1994 |
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Bender, C., Büchler, A., ... |
Haplotype analysis and a newMspl-polymorphism at the phenylalanine hydroxylase gene in the Arabian population in: European journal of pediatrics , ISSN 1432-1076, Vol. 153 (5. 1994), p. 392-392 Zugang: zum Volltext ähnliche Vorschläge |
1994 |