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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2006
Quantitative dysmorphology assessment in Fabry disease
Markus Ries, David F Moore, Chevalia J Robinson, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
May 28, 2008
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease
David F Moore, Ehud Goldin, Monique P Gelderman, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2006
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
Markus Ries, Ellen Schaefer, Till Lührs, et al.
Muscle & Nerve
|
April 4, 2006
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
Raphael Schiffmann, Peter Hauer, Barbara Freeman, et al.
Autophagy
|
November 24, 2021
Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases
Afshin Saffari, Julian Schröter, Sven F Garbade, et al.
BMC Neurology
|
November 8, 2008
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study
Surya N Gupta, Markus Ries, Gary J Murray, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 16, 2007
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities
David F Moore, Oleg V Krokhin, Ronald C Beavis, et al.
Optics Express
|
August 10, 2017
Enhancing the sensitivity of nano-FTIR spectroscopy
Peter Hermann, Bernd Kästner, Arne Hoehl, et al.
The Journal of Pediatrics
|
January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease
Raphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2020
Quantitative retrospective natural history modeling for orphan drug development
Sven F Garbade, Matthias Zielonka, Shoko Komatsuzaki, et al.
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of 10
Search research articles
Search
Showing results (71-80 of 96) with videos related to
Sort By:
Page
of 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 17, 2006
Quantitative dysmorphology assessment in Fabry disease
Markus Ries, David F Moore, Chevalia J Robinson, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
May 28, 2008
Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease
David F Moore, Ehud Goldin, Monique P Gelderman, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2006
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
Markus Ries, Ellen Schaefer, Till Lührs, et al.
Muscle & Nerve
|
April 4, 2006
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
Raphael Schiffmann, Peter Hauer, Barbara Freeman, et al.
Autophagy
|
November 24, 2021
Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases
Afshin Saffari, Julian Schröter, Sven F Garbade, et al.
BMC Neurology
|
November 8, 2008
Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study
Surya N Gupta, Markus Ries, Gary J Murray, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 16, 2007
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities
David F Moore, Oleg V Krokhin, Ronald C Beavis, et al.
Optics Express
|
August 10, 2017
Enhancing the sensitivity of nano-FTIR spectroscopy
Peter Hermann, Bernd Kästner, Arne Hoehl, et al.
The Journal of Pediatrics
|
January 26, 2010
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease
Raphael Schiffmann, Rick A Martin, Tyler Reimschisel, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2020
Quantitative retrospective natural history modeling for orphan drug development
Sven F Garbade, Matthias Zielonka, Shoko Komatsuzaki, et al.
Page
of 10