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Raphael Schiffmann

Showing results (71-80 of 225) with videos related to

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BMC Cardiovascular Disorders|March 13, 2002
Arterial wall properties and Womersley flow in Fabry diseaseDavid F Moore, Gheona Altarescu, Randall Pursley, et al.
Biochemical and Biophysical Research Communications|October 15, 2005
Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domainKyun Oh Lee, Nga Luu, Christine R Kaneski, et al.
BMC Neurology|April 15, 2015
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophyAna Potic, Vera Popovic, Jelena Ostojic, et al.
BMC Neurology|October 21, 2010
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patientsLaetitia Horzinski, Liraz Kantor, Aurélia Huyghe, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine modelDavid F Moore, Monique P Gelderman, Steven R Fuhrmann, et al.
Neurology. Genetics|July 28, 2017
Functionally pathogenic <i>EARS2</i> variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up studyRaphael Schiffmann, Gregory M Pastores, Yeong-Hau H Lien, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|March 6, 2012
TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1Martine Tétreault, Maria Lisa Putorti, Isabelle Thiffault, et al.
Journal of the American Academy of Dermatology|February 5, 2005
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophyChristine Liang, Kenneth H Kraemer, Andrea Morris, et al.
Molecular Genetics and Metabolism|November 13, 2020
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective reviewChelsie N Poffenberger, Sara Inati, Nahid Tayebi, et al.
Pageof 23

Showing results (71-80 of 225) with videos related to

Sort By:
Pageof 23
BMC Cardiovascular Disorders|March 13, 2002
Arterial wall properties and Womersley flow in Fabry diseaseDavid F Moore, Gheona Altarescu, Randall Pursley, et al.
Biochemical and Biophysical Research Communications|October 15, 2005
Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domainKyun Oh Lee, Nga Luu, Christine R Kaneski, et al.
BMC Neurology|April 15, 2015
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophyAna Potic, Vera Popovic, Jelena Ostojic, et al.
BMC Neurology|October 21, 2010
Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patientsLaetitia Horzinski, Liraz Kantor, Aurélia Huyghe, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine modelDavid F Moore, Monique P Gelderman, Steven R Fuhrmann, et al.
Neurology. Genetics|July 28, 2017
Functionally pathogenic <i>EARS2</i> variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up studyRaphael Schiffmann, Gregory M Pastores, Yeong-Hau H Lien, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|March 6, 2012
TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1Martine Tétreault, Maria Lisa Putorti, Isabelle Thiffault, et al.
Journal of the American Academy of Dermatology|February 5, 2005
Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophyChristine Liang, Kenneth H Kraemer, Andrea Morris, et al.
Molecular Genetics and Metabolism|November 13, 2020
EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective reviewChelsie N Poffenberger, Sara Inati, Nahid Tayebi, et al.
Pageof 23