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Neurology. Genetics|July 28, 2017
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivoNathan McNeill, Alessia Nasca, Aurelio Reyes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 11, 2018
Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysisMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2017
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease featuresMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Disaster Medicine and Public Health Preparedness|June 21, 2019
Disasters in Germany and France: An Analysis of the Emergency Events Database From a Pediatric PerspectiveMarkus Ries, Matthias Zielonka, Noah Ries, et al.
Journal of Inherited Metabolic Disease|June 22, 2019
Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosisMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysisMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
Studies in Health Technology and Informatics|August 10, 2012
An EMR based cancer diary - utilisation and initial usability evaluation of a new cancer data visualization toolMarkus Ries, Henriette Golcher, Hans-Ulrich Prokosch, et al.
Journal of Inherited Metabolic Disease|January 30, 2019
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional studyTomáš Sláma, Sven F Garbade, Stefan Kölker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2018
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorderMatthias Zielonka, Sven F Garbade, Stefan Kölker, et al.
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