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Small (Weinheim an Der Bergstrasse, Germany)|April 10, 2019
Cryo-EM-On-a-Chip: Custom-Designed Substrates for the 3D Analysis of MacromoleculesNick A Alden, A Cameron Varano, William J Dearnaley, et al.American Journal of Human Genetics|May 22, 2012
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosageKatherine R Smith, John Damiano, Silvana Franceschetti, et al.Neurology. Genetics|December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severitySasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.American Journal of Human Genetics|May 10, 2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Todor Arsov, Katherine R Smith, John Damiano, et al.Journal of the American Chemical Society|May 23, 2025
Operando Heating and Cooling Electrochemical 4D-STEM Probing Nanoscale Dynamics at Solid-Liquid InterfacesSungin Kim, Valentin Briega-Martos, Shikai Liu, et al.Human Molecular Genetics|January 9, 2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisKatherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, et al.Pageof 2