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B Grandchamp

Showing results (111-120 of 134) with videos related to

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Blood|August 15, 1989
Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypesM C Lecomte, M Garbarz, B Grandchamp, et al.
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.
Leukemia|September 26, 1997
ETV6 is the target of chromosome 12p deletions in t(12;21) childhood acute lymphocytic leukemiaH Cavé, V Cacheux, S Raynaud, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|February 1, 1997
Human coproporphyrinogen oxidase. Biochemical characterization of recombinant normal and R231W mutated enzymes expressed in E. coli as soluble, catalytically active homodimersP Martásek, J M Camadro, C S Raman, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 1994
Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidaseP Martasek, J M Camadro, M H Delfau-Larue, et al.
Human Mutation|September 12, 2000
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extensionB Gérard, N Ginet, G Matthijs, 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.
Clinical and Laboratory Haematology|August 11, 2006
Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosisP-Y Syfuss, A Ciupea, S Brahimi, et al.
Journal of Medical Genetics|August 3, 2000
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsS Vuillaumier-Barrot, G Hetet, A Barnier, et al.
Pageof 14

Showing results (111-120 of 134) with videos related to

Sort By:
Pageof 14
Blood|August 15, 1989
Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypesM C Lecomte, M Garbarz, B Grandchamp, et al.
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.
Leukemia|September 26, 1997
ETV6 is the target of chromosome 12p deletions in t(12;21) childhood acute lymphocytic leukemiaH Cavé, V Cacheux, S Raynaud, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|February 1, 1997
Human coproporphyrinogen oxidase. Biochemical characterization of recombinant normal and R231W mutated enzymes expressed in E. coli as soluble, catalytically active homodimersP Martásek, J M Camadro, C S Raman, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 1994
Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidaseP Martasek, J M Camadro, M H Delfau-Larue, et al.
Human Mutation|September 12, 2000
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extensionB Gérard, N Ginet, G Matthijs, 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.
Clinical and Laboratory Haematology|August 11, 2006
Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosisP-Y Syfuss, A Ciupea, S Brahimi, et al.
Journal of Medical Genetics|August 3, 2000
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsS Vuillaumier-Barrot, G Hetet, A Barnier, et al.
Pageof 14