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The Review of Scientific Instruments|January 1, 2022
Beam halo measurements for special bunches in a storage ring by using a coronagraphJi-Gwang Hwang, Gregor Schiwietz, Paul Goslawski, et al.BMJ Open|July 18, 2018
Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysisThomas Breil, Michael Boettcher, Georg F Hoffmann, et al.BMC Medical Ethics|March 16, 2020
Disease awareness or subtle product placement? Orphan diseases featured in the television series "House, M.D." - a cross-sectional analysisKonstantin Mechler, Juliane Rausch, William K Mountford, et al.The Oncologist|March 30, 2016
Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional AnalysisClemens Stockklausner, Anette Lampert, Georg F Hoffmann, et al.Orphanet Journal of Rare Diseases|May 14, 2016
Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug actThomas Lutz, Anette Lampert, Georg F Hoffmann, 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.Pageof 27