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Y Nordmann

Showing results (101-110 of 116) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|January 1, 1989
Tissue-specific splicing mutation in acute intermittent porphyriaB Grandchamp, C Picat, V Mignotte, et al.
Genomics|June 1, 1993
Ferrochelatase structural mutant (Fechm1Pas) in the house mouseS Boulechfar, J Lamoril, X Montagutelli, et al.
Annales De Dermatologie Et De Venereologie|September 25, 1998
[Allogeneic bone marrow transplantation in congenital erythropoietic porphyria. Gunther's disease]C Lagarde, D Hamel-Teillac, Y De Prost, 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.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 15, 2001
Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetusesF Daïkha-Dahmane, M Dommergues, F Narcy, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyriaC Picat, M H Delfau, F W de Rooij, et al.
The Journal of Clinical Investigation|November 1, 1990
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaM H Delfau, C Picat, F W de Rooij, 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.
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.
European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies|March 1, 1993
Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalisL Verstraeten, N Van Regemorter, A Pardou, et al.
Pageof 12

Showing results (101-110 of 116) with videos related to

Sort By:
Pageof 12
Proceedings of the National Academy of Sciences of the United States of America|January 1, 1989
Tissue-specific splicing mutation in acute intermittent porphyriaB Grandchamp, C Picat, V Mignotte, et al.
Genomics|June 1, 1993
Ferrochelatase structural mutant (Fechm1Pas) in the house mouseS Boulechfar, J Lamoril, X Montagutelli, et al.
Annales De Dermatologie Et De Venereologie|September 25, 1998
[Allogeneic bone marrow transplantation in congenital erythropoietic porphyria. Gunther's disease]C Lagarde, D Hamel-Teillac, Y De Prost, 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.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|February 15, 2001
Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetusesF Daïkha-Dahmane, M Dommergues, F Narcy, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyriaC Picat, M H Delfau, F W de Rooij, et al.
The Journal of Clinical Investigation|November 1, 1990
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyriaM H Delfau, C Picat, F W de Rooij, 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.
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.
European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies|March 1, 1993
Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalisL Verstraeten, N Van Regemorter, A Pardou, et al.
Pageof 12