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American Journal of Human Genetics
|
July 31, 1998
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease
D P Germain, J P Puech, C Caillaud, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
May 12, 2004
Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease
S Roy, K Gaudin, D P Germain, et al.
Journal of Medical Genetics
|
September 22, 2001
Non-invasive evaluation of arterial involvement in patients affected with Fabry disease
P Boutouyrie, S Laurent, B Laloux, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|
February 8, 2003
Arterial remodelling in Fabry disease
P Boutouyrie, S Laurent, B Laloux, et al.
Annales Pharmaceutiques Francaises
|
November 11, 2006
[Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease]
S Roy, D Touboul, A Brunelle, et al.
Human Mutation
|
April 11, 2001
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
D P Germain, D Salard, F Fellmann, et al.
Revue Des Maladies Respiratoires
|
October 24, 2008
[Niemann-Pick disease type B identified following an episode of bronchopneumonia]
A Hervé, S Marchand-Adam, A Fabre, et al.
Hypertension (Dallas, Tex. : 1979)
|
November 17, 2001
Compressibility of the carotid artery in patients with pseudoxanthoma elasticum
P Boutouyrie, D P Germain, A I Tropeano, et al.
Journal of Chromatography. A
|
April 20, 2006
Liquid chromatography on porous graphitic carbon with atmospheric pressure photoionization mass spectrometry and tandem mass spectrometry for the analysis of glycosphingolipids
S Roy, A Delobel, K Gaudin, et al.
Revue Neurologique
|
May 20, 2006
[Neurological aspects of Fabry's disease]
P Clavelou, G Besson, C Elziere, et al.
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of 5
Search research articles
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Showing results (31-40 of 49) with videos related to
Sort By:
Page
of 5
American Journal of Human Genetics
|
July 31, 1998
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease
D P Germain, J P Puech, C Caillaud, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
May 12, 2004
Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease
S Roy, K Gaudin, D P Germain, et al.
Journal of Medical Genetics
|
September 22, 2001
Non-invasive evaluation of arterial involvement in patients affected with Fabry disease
P Boutouyrie, S Laurent, B Laloux, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|
February 8, 2003
Arterial remodelling in Fabry disease
P Boutouyrie, S Laurent, B Laloux, et al.
Annales Pharmaceutiques Francaises
|
November 11, 2006
[Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease]
S Roy, D Touboul, A Brunelle, et al.
Human Mutation
|
April 11, 2001
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease
D P Germain, D Salard, F Fellmann, et al.
Revue Des Maladies Respiratoires
|
October 24, 2008
[Niemann-Pick disease type B identified following an episode of bronchopneumonia]
A Hervé, S Marchand-Adam, A Fabre, et al.
Hypertension (Dallas, Tex. : 1979)
|
November 17, 2001
Compressibility of the carotid artery in patients with pseudoxanthoma elasticum
P Boutouyrie, D P Germain, A I Tropeano, et al.
Journal of Chromatography. A
|
April 20, 2006
Liquid chromatography on porous graphitic carbon with atmospheric pressure photoionization mass spectrometry and tandem mass spectrometry for the analysis of glycosphingolipids
S Roy, A Delobel, K Gaudin, et al.
Revue Neurologique
|
May 20, 2006
[Neurological aspects of Fabry's disease]
P Clavelou, G Besson, C Elziere, et al.
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of 5