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H Puy

Showing results (51-60 of 68) with videos related to

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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.
Journal of the European Academy of Dermatology and Venereology : JEADV|March 27, 2010
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratodermaE I Minder, X Schneider-Yin, R Mamet, et al.
American Journal of Human Genetics|April 20, 2001
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyriaJ Lamoril, H Puy, S D Whatley, et al.
Molecular Medicine (Cambridge, Mass.)|October 10, 2001
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patientsM M Schuurmans, X Schneider-Yin, U B Rüfenacht, et al.
The Journal of Investigative Dermatology|September 18, 1998
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyriaL Gouya, X Schneider-Yin, U Rüfenacht, et al.
American Journal of Human Genetics|September 16, 1999
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutationS D Whatley, H Puy, R R Morgan, et al.
American Journal of Human Genetics|June 19, 1998
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyriaU B Rüfenacht, L Gouya, X Schneider-Yin, et al.
Physiological Research|February 15, 2007
European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the fieldJ-Ch Deybach, M Badminton, H Puy, et al.
The British Journal of Dermatology|April 1, 2016
Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in FranceS de Bataille, H Dutartre, H Puy, et al.
Hepatology (Baltimore, Md.)|March 21, 1998
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tardaJ Lamoril, C Andant, C Bogard, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
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.
Journal of the European Academy of Dermatology and Venereology : JEADV|March 27, 2010
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratodermaE I Minder, X Schneider-Yin, R Mamet, et al.
American Journal of Human Genetics|April 20, 2001
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyriaJ Lamoril, H Puy, S D Whatley, et al.
Molecular Medicine (Cambridge, Mass.)|October 10, 2001
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patientsM M Schuurmans, X Schneider-Yin, U B Rüfenacht, et al.
The Journal of Investigative Dermatology|September 18, 1998
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyriaL Gouya, X Schneider-Yin, U Rüfenacht, et al.
American Journal of Human Genetics|September 16, 1999
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutationS D Whatley, H Puy, R R Morgan, et al.
American Journal of Human Genetics|June 19, 1998
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyriaU B Rüfenacht, L Gouya, X Schneider-Yin, et al.
Physiological Research|February 15, 2007
European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the fieldJ-Ch Deybach, M Badminton, H Puy, et al.
The British Journal of Dermatology|April 1, 2016
Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in FranceS de Bataille, H Dutartre, H Puy, et al.
Hepatology (Baltimore, Md.)|March 21, 1998
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tardaJ Lamoril, C Andant, C Bogard, et al.
Pageof 7