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Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024) Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al. Journal article Epigenomic and phenotypic characterization of DEGCAGS syndrome (2024) Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, et al. Journal article Drone-based infrared thermography to measure the intranasal temperature of baleen whales (2024) Lonati GL, Hynes N, Klymentieva H, Warren A, Zitterbart D, Richter S, Moore MJ, Davies KT Journal article Big data research is everyone's research—Making epilepsy data science accessible to the global community: Report of the ILAE big data commission (2024) Josephson CB, Aronica E, Beniczky S, Boyce D, Cavalleri G, Denaxas S, French J, et al. Journal article, Review article Sterically Hindered Derivatives of Pentacene and Octafluoropentacene (2024) Schroeder ZW, Rezghi Rami P, Adam M, Ferguson MJ, Hampel F, Tykwinski RR Journal article Individual Channel Estimation for RIS-Aided Communication Systems - A General Framework (2024) Zhou G, Peng Z, Pan C, Schober R Journal article Ultrafast Bright Squeezed Vacuum in Nearly Single Spatio-Temporal Mode (2024) Cusson P, Rasputnyi A, Tani F, Seletskiy D, Chekhova M Conference contribution Uterine mesenchymal tumours harboring the KAT6B/A::KANSL1 gene fusion represent a distinct type of uterine sarcoma based on DNA methylation profiles (2024) Kommoss FK, Charbel A, Kolin DL, Howitt BE, Köbel M, Lee JC, McCluggage WG, et al. Journal article Electronic response of a Mott insulator at a current-induced insulator-to-metal transition (2024) Suen CT, Marković I, Zonno M, Heinsdorf N, Zhdanovich S, Jo NH, Schmid M, et al. Journal article High-harmonic generation by a bright squeezed vacuum (2024) Rasputnyi A, Chen Z, Birk M, Cohen O, Kaminer I, Krüger M, Seletskiy D, et al. Journal article