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Roseline Froissart

Showing results (21-30 of 62) with videos related to

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Muscle & Nerve|October 9, 2009
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutationsCarla Fernandez, Cécile Halbert, André Maues De Paula, et al.
Meta Gene|August 13, 2015
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS geneLatifa Chkioua, Souhir Khedhiri, Oussama Grissa, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 14, 2012
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best PracticeWim Terryn, Pierre Cochat, Roseline Froissart, et al.
Journal of the Neurological Sciences|April 2, 2021
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiencyMichela Bisciglia, Roseline Froissart, Anne Laure Bedat-Millet, et al.
Human Molecular Genetics|June 21, 2011
Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cellsThomas Lemonnier, Stéphane Blanchard, Diana Toli, et al.
Journal of Inherited Metabolic Disease|March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disordersMonique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
Orphanet Journal of Rare Diseases|May 24, 2011
Glucose-6-phosphatase deficiencyRoseline Froissart, Monique Piraud, Alix Mollet Boudjemline, et al.
Journal of the Neurological Sciences|November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body diseaseSégolène Billot, Dominique Hervé, Hasan O Akman, et al.
Journal of Inherited Metabolic Disease|July 10, 2016
Antenatal manifestations of inborn errors of metabolism: biological diagnosisChristine Vianey-Saban, Cécile Acquaviva, David Cheillan, et al.
European Journal of Medical Research|July 24, 2023
French recommendations for the management of glycogen storage disease type IIICamille Wicker, Aline Cano, Valérie Decostre, et al.
Pageof 7

Showing results (21-30 of 62) with videos related to

Sort By:
Pageof 7
Muscle & Nerve|October 9, 2009
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutationsCarla Fernandez, Cécile Halbert, André Maues De Paula, et al.
Meta Gene|August 13, 2015
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS geneLatifa Chkioua, Souhir Khedhiri, Oussama Grissa, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 14, 2012
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best PracticeWim Terryn, Pierre Cochat, Roseline Froissart, et al.
Journal of the Neurological Sciences|April 2, 2021
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiencyMichela Bisciglia, Roseline Froissart, Anne Laure Bedat-Millet, et al.
Human Molecular Genetics|June 21, 2011
Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cellsThomas Lemonnier, Stéphane Blanchard, Diana Toli, et al.
Journal of Inherited Metabolic Disease|March 21, 2018
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disordersMonique Piraud, Magali Pettazzoni, Pamela Lavoie, et al.
Orphanet Journal of Rare Diseases|May 24, 2011
Glucose-6-phosphatase deficiencyRoseline Froissart, Monique Piraud, Alix Mollet Boudjemline, et al.
Journal of the Neurological Sciences|November 14, 2012
Acute but transient neurological deterioration revealing adult polyglucosan body diseaseSégolène Billot, Dominique Hervé, Hasan O Akman, et al.
Journal of Inherited Metabolic Disease|July 10, 2016
Antenatal manifestations of inborn errors of metabolism: biological diagnosisChristine Vianey-Saban, Cécile Acquaviva, David Cheillan, et al.
European Journal of Medical Research|July 24, 2023
French recommendations for the management of glycogen storage disease type IIICamille Wicker, Aline Cano, Valérie Decostre, et al.
Pageof 7