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F K Trefz

Showing results (41-50 of 70) with videos related to

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European Journal of Pediatrics|November 1, 1981
Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urineF K Trefz, H Schmidt, B Tauscher, 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.
Human Genetics|September 1, 1988
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German familiesM Krawczak, D S Konecki, J Schmidtke, et al.
Pediatric Research|July 10, 1999
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysisD Matern, A W Strauss, S L Hillman, et al.
Journal of Inherited Metabolic Disease|October 13, 2001
CblC/D defect combined with haemodynamically highly relevant VSDM Tomaske, A Bosk, M K Heinemann, 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.
European Journal of Pediatrics|May 1, 1996
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?E Mayatepek, G F Hoffmann, R Baumgartner, et al.
European Journal of Pediatrics|January 1, 1994
Neurological manifestations of organic acid disordersG F Hoffmann, K M Gibson, F K Trefz, et al.
European Journal of Pediatrics|May 1, 1994
Haplotype analysis and a new MspI-polymorphism at the phenylalanine hydroxylase gene in the Arabian populationC Bender, A Büchler, B Schmidt-Mader, et al.
Human Genetics|June 1, 1990
RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase geneF K Trefz, M Yoshino, A Nishiyori, et al.
Pageof 7

Showing results (41-50 of 70) with videos related to

Sort By:
Pageof 7
European Journal of Pediatrics|November 1, 1981
Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urineF K Trefz, H Schmidt, B Tauscher, 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.
Human Genetics|September 1, 1988
Allelic association of the cystic fibrosis locus and two DNA markers, XV2c and KM19, in 55 German familiesM Krawczak, D S Konecki, J Schmidtke, et al.
Pediatric Research|July 10, 1999
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysisD Matern, A W Strauss, S L Hillman, et al.
Journal of Inherited Metabolic Disease|October 13, 2001
CblC/D defect combined with haemodynamically highly relevant VSDM Tomaske, A Bosk, M K Heinemann, 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.
European Journal of Pediatrics|May 1, 1996
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?E Mayatepek, G F Hoffmann, R Baumgartner, et al.
European Journal of Pediatrics|January 1, 1994
Neurological manifestations of organic acid disordersG F Hoffmann, K M Gibson, F K Trefz, et al.
European Journal of Pediatrics|May 1, 1994
Haplotype analysis and a new MspI-polymorphism at the phenylalanine hydroxylase gene in the Arabian populationC Bender, A Büchler, B Schmidt-Mader, et al.
Human Genetics|June 1, 1990
RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase geneF K Trefz, M Yoshino, A Nishiyori, et al.
Pageof 7