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Y Nordmann

Showing results (91-100 of 116) with videos related to

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Human Genetics|January 1, 1982
Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effectH de Verneuil, N Phung, Y Nordmann, et al.
Human Genetics|March 1, 1993
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyriaX F Gu, F de Rooij, J S Lee, et al.
American Journal of Human Genetics|June 1, 1997
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyriaH Puy, J C Deybach, J Lamoril, et al.
Human Genetics|January 1, 1984
Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassayH de Verneuil, B Grandchamp, C Foubert, et al.
Human Genetics|October 13, 2000
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphismsA M Robreau-Fraolini, H Puy, C Aquaron, et al.
Clinical Chemistry|January 1, 1992
Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activityF Bourgeois, X F Gu, J C Deybach, et al.
European Journal of Clinical Investigation|October 1, 1989
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseB Grandchamp, C Picat, R Kauppinen, et al.
Journal of Internal Medicine|November 14, 1997
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in FranceY Nordmann, H Puy, V Da Silva, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|April 4, 2002
Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyriaU Gross, H Puy, A Kühnel, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 4, 1999
Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresisD Tchernitchko, J Lamoril, H Puy, et al.
Pageof 12

Showing results (91-100 of 116) with videos related to

Sort By:
Pageof 12
Human Genetics|January 1, 1982
Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effectH de Verneuil, N Phung, Y Nordmann, et al.
Human Genetics|March 1, 1993
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyriaX F Gu, F de Rooij, J S Lee, et al.
American Journal of Human Genetics|June 1, 1997
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyriaH Puy, J C Deybach, J Lamoril, et al.
Human Genetics|January 1, 1984
Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassayH de Verneuil, B Grandchamp, C Foubert, et al.
Human Genetics|October 13, 2000
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphismsA M Robreau-Fraolini, H Puy, C Aquaron, et al.
Clinical Chemistry|January 1, 1992
Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activityF Bourgeois, X F Gu, J C Deybach, et al.
European Journal of Clinical Investigation|October 1, 1989
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminaseB Grandchamp, C Picat, R Kauppinen, et al.
Journal of Internal Medicine|November 14, 1997
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in FranceY Nordmann, H Puy, V Da Silva, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|April 4, 2002
Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyriaU Gross, H Puy, A Kühnel, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 4, 1999
Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresisD Tchernitchko, J Lamoril, H Puy, et al.
Pageof 12