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P Germain

Showing results (261-270 of 332) with videos related to

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Prenatal Diagnosis|March 4, 2000
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at riskC Lépinard, P Descamps, G Meneguzzi, et al.
Pediatric Research|July 4, 2008
Characterization of Fabry disease in 352 pediatric patients in the Fabry RegistryRobert J Hopkin, John Bissler, Maryam Banikazemi, et al.
Annales De Cardiologie Et D'Angeiologie|July 1, 1986
[Value of global ejection fractions based on the presence or absence of left ventricular dyskinesia. A comparison between contrast angiography and angioscintigraphy]P Richard, J M Mossard, A Constantinesco, et al.
Clinical Genetics|May 15, 2015
X-chromosome inactivation in female patients with Fabry diseaseL Echevarria, K Benistan, A Toussaint, et al.
Molecular Genetics and Metabolism|May 23, 2018
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of expertsMarco Spada, Ralf Baron, Perry M Elliott, et al.
Biomolecules|July 2, 2021
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of ExperienceVincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 23, 2009
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry RegistryAlberto Ortiz, Bruno Cianciaruso, Marta Cizmarik, et al.
European Journal of Preventive Cardiology|April 1, 2011
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry diseaseCédric Collin, Marie Briet, Thi-Chien Tran, et al.
Circulation. Genomic and Precision Medicine|December 4, 2023
Impact of <i>GLA</i> Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening StudiesEmanuele Monda, Gaetano Diana, Francesca Graziani, et al.
Molecular Genetics and Metabolism|March 12, 2013
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effectsR Giugliani, S Waldek, D P Germain, et al.
Pageof 34

Showing results (261-270 of 332) with videos related to

Sort By:
Pageof 34
Prenatal Diagnosis|March 4, 2000
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at riskC Lépinard, P Descamps, G Meneguzzi, et al.
Pediatric Research|July 4, 2008
Characterization of Fabry disease in 352 pediatric patients in the Fabry RegistryRobert J Hopkin, John Bissler, Maryam Banikazemi, et al.
Annales De Cardiologie Et D'Angeiologie|July 1, 1986
[Value of global ejection fractions based on the presence or absence of left ventricular dyskinesia. A comparison between contrast angiography and angioscintigraphy]P Richard, J M Mossard, A Constantinesco, et al.
Clinical Genetics|May 15, 2015
X-chromosome inactivation in female patients with Fabry diseaseL Echevarria, K Benistan, A Toussaint, et al.
Molecular Genetics and Metabolism|May 23, 2018
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of expertsMarco Spada, Ralf Baron, Perry M Elliott, et al.
Biomolecules|July 2, 2021
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of ExperienceVincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 23, 2009
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry RegistryAlberto Ortiz, Bruno Cianciaruso, Marta Cizmarik, et al.
European Journal of Preventive Cardiology|April 1, 2011
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry diseaseCédric Collin, Marie Briet, Thi-Chien Tran, et al.
Circulation. Genomic and Precision Medicine|December 4, 2023
Impact of <i>GLA</i> Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening StudiesEmanuele Monda, Gaetano Diana, Francesca Graziani, et al.
Molecular Genetics and Metabolism|March 12, 2013
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effectsR Giugliani, S Waldek, D P Germain, et al.
Pageof 34