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P Germain

Showing results (251-260 of 332) with videos related to

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Basic and Clinical Andrology|May 25, 2019
Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational studyAline Papaxanthos-Roche, Aline Maillard, Lucie Chansel-Debordeaux, et al.
Journal of Mass Spectrometry : JMS|November 16, 2005
Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry diseaseArnaud Delobel, Sandrine Roy, David Touboul, et al.
Annales De Medecine Interne|March 10, 2001
[Cutaneous pyoderma gangrenosum with hepatosplenic localization and monoclonal gammapathy. A case report]X Delbrel, P Germain, J Fach, et al.
Clinical Genetics|December 20, 2021
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry diseaseDominique P Germain, Thierry Levade, Eric Hachulla, et al.
Legal Medicine (Tokyo, Japan)|January 29, 2011
Sudden death associated to vascular Ehlers-Danlos syndrome. A case reportPhilippe Charlier, Dominique P Germain, Xavier Jeunemaître, et al.
Annals of Internal Medicine|February 15, 2003
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapyRobert J Desnick, Roscoe Brady, John Barranger, et al.
Frontiers in Genetics|March 27, 2023
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variantIvana Dabaj, Robert Y Carlier, Klaus Dieterich, et al.
The New England Journal of Medicine|July 7, 2001
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's diseaseC M Eng, N Guffon, W R Wilcox, et al.
The Journal of Clinical Investigation|October 6, 1997
Gluconeogenesis, glucose handling, and structural changes in livers of the adult offspring of rats partially deprived of protein during pregnancy and lactationS P Burns, M Desai, R D Cohen, et al.
Genetics in Medicine Open|May 13, 2026
Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screeningAlessandro P Burlina, Vincenza Gragnaniello, Chiara Edini, et al.
Pageof 34

Showing results (251-260 of 332) with videos related to

Sort By:
Pageof 34
Basic and Clinical Andrology|May 25, 2019
Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational studyAline Papaxanthos-Roche, Aline Maillard, Lucie Chansel-Debordeaux, et al.
Journal of Mass Spectrometry : JMS|November 16, 2005
Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry diseaseArnaud Delobel, Sandrine Roy, David Touboul, et al.
Annales De Medecine Interne|March 10, 2001
[Cutaneous pyoderma gangrenosum with hepatosplenic localization and monoclonal gammapathy. A case report]X Delbrel, P Germain, J Fach, et al.
Clinical Genetics|December 20, 2021
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry diseaseDominique P Germain, Thierry Levade, Eric Hachulla, et al.
Legal Medicine (Tokyo, Japan)|January 29, 2011
Sudden death associated to vascular Ehlers-Danlos syndrome. A case reportPhilippe Charlier, Dominique P Germain, Xavier Jeunemaître, et al.
Annals of Internal Medicine|February 15, 2003
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapyRobert J Desnick, Roscoe Brady, John Barranger, et al.
Frontiers in Genetics|March 27, 2023
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variantIvana Dabaj, Robert Y Carlier, Klaus Dieterich, et al.
The New England Journal of Medicine|July 7, 2001
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's diseaseC M Eng, N Guffon, W R Wilcox, et al.
The Journal of Clinical Investigation|October 6, 1997
Gluconeogenesis, glucose handling, and structural changes in livers of the adult offspring of rats partially deprived of protein during pregnancy and lactationS P Burns, M Desai, R D Cohen, et al.
Genetics in Medicine Open|May 13, 2026
Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screeningAlessandro P Burlina, Vincenza Gragnaniello, Chiara Edini, et al.
Pageof 34