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H de Verneuil

Showing results (41-50 of 89) with videos related to

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Human Genetics|May 1, 1996
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese familyK Tanigawa, M Bensidhoum, N Takamura, et al.
Biochemical and Biophysical Research Communications|January 13, 1984
Cell-free translation of human uroporphyrinogen decarboxylase mRNAsB Grandchamp, P H Roméo, H de Verneuil, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyriaA Fontanellas, M Bensidhoum, R Enriquez de Salamanca, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|August 1, 1995
[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure]H de Verneuil, F Moreau-Gaudry, C Ged, et al.
Journal of Inherited Metabolic Disease|June 1, 1997
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyriaF Mazurier, F Moreau-Gaudry, S Salesse, et al.
Prenatal Diagnosis|January 1, 1996
Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysisC Ged, F Moreau-Gaudry, L Taine, et al.
Archives of Dermatology|June 20, 2002
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetusCécile Ged, D Ozalla, C Herrero, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 1, 1984
Isolation and identification of a cDNA clone coding for rat uroporphyrinogen decarboxylaseP H Romeo, A Dubart, B Grandchamp, et al.
La Nouvelle Presse Medicale|April 30, 1977
[Demonstration of hereditary enzyme defect in coproporphyria]B Grandchamp, N Phung, M Grelier, et al.
Human Genetics|January 1, 1983
Assignment of the human coproporphyrinogen oxidase to chromosome 9B Grandchamp, D Weil, Y Nordmann, et al.
Pageof 9

Showing results (41-50 of 89) with videos related to

Sort By:
Pageof 9
Human Genetics|May 1, 1996
A novel point mutation in congenital erythropoietic porphyria in two members of Japanese familyK Tanigawa, M Bensidhoum, N Takamura, et al.
Biochemical and Biophysical Research Communications|January 13, 1984
Cell-free translation of human uroporphyrinogen decarboxylase mRNAsB Grandchamp, P H Roméo, H de Verneuil, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyriaA Fontanellas, M Bensidhoum, R Enriquez de Salamanca, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|August 1, 1995
[Congenital erythropoietic porphyria. Apropos of a fatal case in the neonatal period due to acute hemolysis with hepatic failure]H de Verneuil, F Moreau-Gaudry, C Ged, et al.
Journal of Inherited Metabolic Disease|June 1, 1997
Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyriaF Mazurier, F Moreau-Gaudry, S Salesse, et al.
Prenatal Diagnosis|January 1, 1996
Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysisC Ged, F Moreau-Gaudry, L Taine, et al.
Archives of Dermatology|June 20, 2002
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetusCécile Ged, D Ozalla, C Herrero, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 1, 1984
Isolation and identification of a cDNA clone coding for rat uroporphyrinogen decarboxylaseP H Romeo, A Dubart, B Grandchamp, et al.
La Nouvelle Presse Medicale|April 30, 1977
[Demonstration of hereditary enzyme defect in coproporphyria]B Grandchamp, N Phung, M Grelier, et al.
Human Genetics|January 1, 1983
Assignment of the human coproporphyrinogen oxidase to chromosome 9B Grandchamp, D Weil, Y Nordmann, et al.
Pageof 9