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Journal of Medical Genetics|May 23, 1998
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in PortugalI Rivera, P Leandro, U Lichter-Konecki, et al.Biochemistry|September 8, 1992
Structural characterization of the 5' regions of the human phenylalanine hydroxylase geneD S Konecki, Y Wang, F K Trefz, et al.Molecular Genetics and Metabolism|June 17, 2006
The effect of missense mutations in the RhoGAP-homology domain on ocrl1 functionU Lichter-Konecki, L W Farber, J S Cronin, et al.European Journal of Pediatrics|July 1, 1996
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuriaP Burgard, A Rupp, D S Konecki, et al.American Journal of Human Genetics|September 1, 1992
Associations between mutations and a VNTR in the human phenylalanine hydroxylase geneA A Goltsov, R C Eisensmith, D S Konecki, et al.Human Genetics|April 1, 1988
Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German populationU Lichter-Konecki, M Schlotter, D S Konecki, et al.Differentiation; Research in Biological Diversity|August 17, 1999
Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesisU Lichter-Konecki, S E Moter, B R Krawisz, et al.Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde|April 1, 1989
[DNA diagnosis of monogene hereditary diseases exemplified by phenylketonuria and mucoviscidosis]F K Trefz, U Lichter-Konecki, M Krawczak, et al.The Journal of Biological Chemistry|July 25, 1992
Tissue- and development-specific expression of the human phenylalanine hydroxylase/chloramphenicol acetyltransferase fusion gene in transgenic miceY Wang, J L DeMayo, T M Hahn, et al.Human Genetics|September 1, 1992
Haplotype distribution and mutations at the PAH locus in CroatiaI Barić, D Mardesić, G Gjurić, et al.Pageof 4