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Y Nordmann

Showing results (71-80 of 116) with videos related to

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Human Genetics|December 22, 1998
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyriaH Puy, U Gross, J C Deybach, et al.
Human Genetics|February 1, 1980
Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at riskJ C Deybach, B Grandchamp, M Grelier, et al.
Clinical Chemistry|September 11, 1998
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-upU Gross, S Sassa, K Jacob, et al.
Nucleic Acids Research|August 25, 1989
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyriaB Grandchamp, C Picat, F de Rooij, et al.
Australian and New Zealand Journal of Medicine|August 1, 1990
An unusual case of variegate porphyria with possible homozygous inheritanceJ Coakley, R Hawkins, N Crinis, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
A retrospective study of a patient with homozygous form of acute intermittent porphyriaG J Beukeveld, B G Wolthers, Y Nordmann, et al.
The Journal of Clinical Investigation|January 1, 1996
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the ratH Puy, J C Deybach, A Bogdan, et al.
Human Genetics|January 1, 1983
Assignment of the human coproporphyrinogen oxidase to chromosome 9B Grandchamp, D Weil, Y Nordmann, et al.
American Journal of Human Genetics|August 1, 1991
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the diseaseM H Delfau, C Picat, F De Rooij, et al.
Molecular and Cellular Probes|February 5, 2000
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyriaU Gross, H Puy, M Doss, et al.
Pageof 12

Showing results (71-80 of 116) with videos related to

Sort By:
Pageof 12
Human Genetics|December 22, 1998
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyriaH Puy, U Gross, J C Deybach, et al.
Human Genetics|February 1, 1980
Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at riskJ C Deybach, B Grandchamp, M Grelier, et al.
Clinical Chemistry|September 11, 1998
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-upU Gross, S Sassa, K Jacob, et al.
Nucleic Acids Research|August 25, 1989
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyriaB Grandchamp, C Picat, F de Rooij, et al.
Australian and New Zealand Journal of Medicine|August 1, 1990
An unusual case of variegate porphyria with possible homozygous inheritanceJ Coakley, R Hawkins, N Crinis, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
A retrospective study of a patient with homozygous form of acute intermittent porphyriaG J Beukeveld, B G Wolthers, Y Nordmann, et al.
The Journal of Clinical Investigation|January 1, 1996
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the ratH Puy, J C Deybach, A Bogdan, et al.
Human Genetics|January 1, 1983
Assignment of the human coproporphyrinogen oxidase to chromosome 9B Grandchamp, D Weil, Y Nordmann, et al.
American Journal of Human Genetics|August 1, 1991
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the diseaseM H Delfau, C Picat, F De Rooij, et al.
Molecular and Cellular Probes|February 5, 2000
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyriaU Gross, H Puy, M Doss, et al.
Pageof 12