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Raphael Schiffmann

Showing results (51-60 of 225) with videos related to

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Journal of Child Neurology|August 28, 2003
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imagingSimona Bonavita, Anette Virta, Neal Jeffries, et al.
International Journal of Mass Spectrometry|March 13, 2012
Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal FluidKristy J Brown, Adeline Vanderver, Eric P Hoffman, et al.
Plos One|March 17, 2015
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher diseaseHila Zigdon, Alon Savidor, Yishai Levin, et al.
Investigative Ophthalmology & Visual Science|March 11, 2008
Isolated ocular disease is associated with decreased mucolipin-1 channel conductanceEhud Goldin, Rafael C Caruso, William Benko, et al.
Journal of Inherited Metabolic Disease|August 27, 2019
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohortAlbina Nowak, Uyen Huynh-Do, Pierre-Alexandre Krayenbuehl, et al.
European Journal of Medical Genetics|June 25, 2017
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutationReza Asadollahi, Markus Zweier, Laura Gogoll, et al.
Molecular Genetics and Metabolism|October 19, 2021
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3Emily Daykin, Nicole Fleischer, Magy Abdelwahab, et al.
Scientific Reports|September 28, 2016
BK channel agonist represents a potential therapeutic approach for lysosomal storage diseasesXi Zoë Zhong, Xue Sun, Qi Cao, et al.
Molecular Genetics and Metabolism|December 26, 2006
Cellular and tissue distribution of intravenously administered agalsidase alfaGary J Murray, Miriam R Anver, Maureen A Kennedy, et al.
Molecular Genetics and Metabolism|July 24, 2007
Establishment and characterization of Fabry disease endothelial cells with an extended lifespanJin-Song Shen, Xing-Li Meng, Raphael Schiffmann, et al.
Pageof 23

Showing results (51-60 of 225) with videos related to

Sort By:
Pageof 23
Journal of Child Neurology|August 28, 2003
Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imagingSimona Bonavita, Anette Virta, Neal Jeffries, et al.
International Journal of Mass Spectrometry|March 13, 2012
Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal FluidKristy J Brown, Adeline Vanderver, Eric P Hoffman, et al.
Plos One|March 17, 2015
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher diseaseHila Zigdon, Alon Savidor, Yishai Levin, et al.
Investigative Ophthalmology & Visual Science|March 11, 2008
Isolated ocular disease is associated with decreased mucolipin-1 channel conductanceEhud Goldin, Rafael C Caruso, William Benko, et al.
Journal of Inherited Metabolic Disease|August 27, 2019
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohortAlbina Nowak, Uyen Huynh-Do, Pierre-Alexandre Krayenbuehl, et al.
European Journal of Medical Genetics|June 25, 2017
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutationReza Asadollahi, Markus Zweier, Laura Gogoll, et al.
Molecular Genetics and Metabolism|October 19, 2021
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3Emily Daykin, Nicole Fleischer, Magy Abdelwahab, et al.
Scientific Reports|September 28, 2016
BK channel agonist represents a potential therapeutic approach for lysosomal storage diseasesXi Zoë Zhong, Xue Sun, Qi Cao, et al.
Molecular Genetics and Metabolism|December 26, 2006
Cellular and tissue distribution of intravenously administered agalsidase alfaGary J Murray, Miriam R Anver, Maureen A Kennedy, et al.
Molecular Genetics and Metabolism|July 24, 2007
Establishment and characterization of Fabry disease endothelial cells with an extended lifespanJin-Song Shen, Xing-Li Meng, Raphael Schiffmann, et al.
Pageof 23