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H de Verneuil

Showing results (51-60 of 89) with videos related to

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The British Journal of Dermatology|May 23, 2012
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian populationK Ezzedine, C Droitcourt, C Ged, 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.
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.
Archives Francaises De Pediatrie|December 1, 1992
[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]H de Verneuil, F Moreau-Gaudry, S Laradi, et al.
Dermatology (Basel, Switzerland)|June 25, 2011
A prospective study of filaggrin null mutations in keratoconus patients with or without atopic disordersC Droitcourt, D Touboul, C Ged, 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.
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 Mutation|September 8, 1999
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCTL Christiansen, C Ged, I Hombrados, et al.
Human Gene Therapy|January 1, 1995
Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transferF Moreau-Gaudry, C Ged, C Barbot, 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.
Pageof 9

Showing results (51-60 of 89) with videos related to

Sort By:
Pageof 9
The British Journal of Dermatology|May 23, 2012
Usefulness of a global clinical ichthyosis vulgaris scoring system for predicting common FLG null mutations in an adult caucasian populationK Ezzedine, C Droitcourt, C Ged, 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.
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.
Archives Francaises De Pediatrie|December 1, 1992
[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]H de Verneuil, F Moreau-Gaudry, S Laradi, et al.
Dermatology (Basel, Switzerland)|June 25, 2011
A prospective study of filaggrin null mutations in keratoconus patients with or without atopic disordersC Droitcourt, D Touboul, C Ged, 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.
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 Mutation|September 8, 1999
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCTL Christiansen, C Ged, I Hombrados, et al.
Human Gene Therapy|January 1, 1995
Correction of the enzyme defect in cultured congenital erythropoietic porphyria disease cells by retrovirus-mediated gene transferF Moreau-Gaudry, C Ged, C Barbot, 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.
Pageof 9