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P Germain

Showing results (291-300 of 332) with videos related to

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European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
International Journal of Molecular Sciences|September 28, 2024
Prevalence of Fabry Disease in Patients on Dialysis in FranceFlorence Sens, Laure Guittard, Bertrand Knebelmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension studyDominique P Germain, Kathy Nicholls, Roberto Giugliani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine M Eng, Dominique P Germain, Maryam Banikazemi, et al.
Muscle & Nerve|March 27, 2015
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable patternKarolina Hankiewicz, Robert Y Carlier, Leila Lazaro, et al.
Neurology|May 11, 2016
Determinants of white matter hyperintensity burden in patients with Fabry diseaseNatalia S Rost, Lisa Cloonan, Allison S Kanakis, et al.
Journal of Medical Genetics|March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P Germain, Joel Charrow, Robert J Desnick, et al.
Clinical Journal of the American Society of Nephrology : CJASN|September 4, 2010
Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry RegistryChristoph Wanner, João P Oliveira, Alberto Ortiz, et al.
Molecular Genetics & Genomic Medicine|April 13, 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry studyDominique P Germain, Eva Brand, Alessandro Burlina, et al.
Clinical Kidney Journal|January 4, 2021
Fabry disease and COVID-19: international expert recommendations for management based on real-world experienceDawn A Laney, Dominique P Germain, João Paulo Oliveira, et al.
Pageof 34

Showing results (291-300 of 332) with videos related to

Sort By:
Pageof 34
European Journal of Human Genetics : EJHG|December 1, 2017
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disabilityJérémie Mortreux, Tiffany Busa, Dominique P Germain, et al.
International Journal of Molecular Sciences|September 28, 2024
Prevalence of Fabry Disease in Patients on Dialysis in FranceFlorence Sens, Laure Guittard, Bertrand Knebelmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension studyDominique P Germain, Kathy Nicholls, Roberto Giugliani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Fabry disease: guidelines for the evaluation and management of multi-organ system involvementChristine M Eng, Dominique P Germain, Maryam Banikazemi, et al.
Muscle & Nerve|March 27, 2015
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable patternKarolina Hankiewicz, Robert Y Carlier, Leila Lazaro, et al.
Neurology|May 11, 2016
Determinants of white matter hyperintensity burden in patients with Fabry diseaseNatalia S Rost, Lisa Cloonan, Allison S Kanakis, et al.
Journal of Medical Genetics|March 22, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry diseaseDominique P Germain, Joel Charrow, Robert J Desnick, et al.
Clinical Journal of the American Society of Nephrology : CJASN|September 4, 2010
Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry RegistryChristoph Wanner, João P Oliveira, Alberto Ortiz, et al.
Molecular Genetics & Genomic Medicine|April 13, 2018
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry studyDominique P Germain, Eva Brand, Alessandro Burlina, et al.
Clinical Kidney Journal|January 4, 2021
Fabry disease and COVID-19: international expert recommendations for management based on real-world experienceDawn A Laney, Dominique P Germain, João Paulo Oliveira, et al.
Pageof 34