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E Girodon

Showing results (21-30 of 54) with videos related to

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FEBS Letters|July 1, 1999
Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosisP Fanen, J Clain, R Labarthe, et al.
Human Mutation|April 17, 1999
Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. OnlineP M Frossard, E Girodon, K P Dawson, et al.
Journal of Medical Genetics|November 3, 2004
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosisF Niel, J Martin, F Dastot-Le Moal, et al.
British Journal of Haematology|May 1, 1992
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro deltaP Gallano, E Girodon, N Ghanem, et al.
Human Mutation|February 6, 1998
The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphomaA Lombès, D Bories, E Girodon, et al.
Clinical Genetics|November 15, 2005
Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutationR Epaud, E Girodon, H Corvol, et al.
Prenatal Diagnosis|December 27, 2005
Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q)M Yamamoto, D Molina-Gomes, E Girodon-Boulandet, et al.
Clinical Chemistry|September 7, 2000
Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19)B Costes, E Girodon, D Vidaud, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|May 1, 1994
Hb Taybe (alpha 38 or 39 THR deleted): an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygousF Galacteros, E Girodon, A M'Rad, et al.
Annals of Human Genetics|January 11, 2005
Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian populationG Castaldo, A Polizzi, R Tomaiuolo, et al.
Pageof 6

Showing results (21-30 of 54) with videos related to

Sort By:
Pageof 6
FEBS Letters|July 1, 1999
Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosisP Fanen, J Clain, R Labarthe, et al.
Human Mutation|April 17, 1999
Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. OnlineP M Frossard, E Girodon, K P Dawson, et al.
Journal of Medical Genetics|November 3, 2004
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosisF Niel, J Martin, F Dastot-Le Moal, et al.
British Journal of Haematology|May 1, 1992
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro deltaP Gallano, E Girodon, N Ghanem, et al.
Human Mutation|February 6, 1998
The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphomaA Lombès, D Bories, E Girodon, et al.
Clinical Genetics|November 15, 2005
Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutationR Epaud, E Girodon, H Corvol, et al.
Prenatal Diagnosis|December 27, 2005
Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q)M Yamamoto, D Molina-Gomes, E Girodon-Boulandet, et al.
Clinical Chemistry|September 7, 2000
Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19)B Costes, E Girodon, D Vidaud, et al.
Comptes Rendus De L'Academie Des Sciences. Serie III, Sciences De La Vie|May 1, 1994
Hb Taybe (alpha 38 or 39 THR deleted): an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygousF Galacteros, E Girodon, A M'Rad, et al.
Annals of Human Genetics|January 11, 2005
Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian populationG Castaldo, A Polizzi, R Tomaiuolo, et al.
Pageof 6