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Y Nordmann

Showing results (81-90 of 116) with videos related to

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Human Heredity|April 27, 2000
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyriaX Schneider-Yin, C Bogard, U B Rüfenacht, et al.
Human Genetics|January 1, 1988
Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tardaH de Verneuil, J Hansen, C Picat, et al.
European Journal of Clinical Investigation|April 1, 1991
Identification of a new mutation responsible for hepatoerythropoietic porphyriaM Romana, B Grandchamp, A Dubart, et al.
Human Molecular Genetics|March 1, 1996
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyriaJ C Deybach, H Puy, A M Robréau, et al.
Journal of Inherited Metabolic Disease|September 14, 2002
A molecular, enzymatic and clinical study in a family with hereditary coproporphyriaU Gross, H Puy, U Meissauer, et al.
Human Genetics|January 1, 1994
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresisX F Gu, F de Rooij, G Voortman, et al.
The Journal of Clinical Investigation|February 1, 1986
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyriaH de Verneuil, B Grandchamp, P H Romeo, et al.
Presse Medicale (Paris, France : 1983)|October 4, 1986
[Acute attacks of hepatic porphyria. Treatment with hematin. 5 cases]J F Devars du Mayne, J C Deybach, L Phung, et al.
Critical Care Medicine|October 22, 1998
Nitric oxide synthase inhibition and the induction of cytochrome P-450 affect heme oxygenase-1 messenger RNA expression after partial hepatectomy and acute inflammation in ratsS Lyoumi, H Puy, F Tamion, et al.
Human Genetics|July 1, 1992
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyriaH de Verneuil, F Bourgeois, F de Rooij, et al.
Pageof 12

Showing results (81-90 of 116) with videos related to

Sort By:
Pageof 12
Human Heredity|April 27, 2000
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyriaX Schneider-Yin, C Bogard, U B Rüfenacht, et al.
Human Genetics|January 1, 1988
Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tardaH de Verneuil, J Hansen, C Picat, et al.
European Journal of Clinical Investigation|April 1, 1991
Identification of a new mutation responsible for hepatoerythropoietic porphyriaM Romana, B Grandchamp, A Dubart, et al.
Human Molecular Genetics|March 1, 1996
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyriaJ C Deybach, H Puy, A M Robréau, et al.
Journal of Inherited Metabolic Disease|September 14, 2002
A molecular, enzymatic and clinical study in a family with hereditary coproporphyriaU Gross, H Puy, U Meissauer, et al.
Human Genetics|January 1, 1994
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresisX F Gu, F de Rooij, G Voortman, et al.
The Journal of Clinical Investigation|February 1, 1986
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyriaH de Verneuil, B Grandchamp, P H Romeo, et al.
Presse Medicale (Paris, France : 1983)|October 4, 1986
[Acute attacks of hepatic porphyria. Treatment with hematin. 5 cases]J F Devars du Mayne, J C Deybach, L Phung, et al.
Critical Care Medicine|October 22, 1998
Nitric oxide synthase inhibition and the induction of cytochrome P-450 affect heme oxygenase-1 messenger RNA expression after partial hepatectomy and acute inflammation in ratsS Lyoumi, H Puy, F Tamion, et al.
Human Genetics|July 1, 1992
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyriaH de Verneuil, F Bourgeois, F de Rooij, et al.
Pageof 12