Filter the results Item type Select All/None Folder Collection Publication Researcher Page Event Image File News Item New items since Yesterday Last week Last month Ever Search results Subscribe to an always-updated RSS feed. 24 items matching your search terms. Sort by relevance date (newest first) alphabetically Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder Journal of Human Genetics Located in Newsroom / Publications Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy Journial of Quantitative Cell Science - Citometry Located in Newsroom / Publications Predicting drug response from single-cell expression profiles of tumours BMC Medicine Located in Newsroom / Publications Lysosomes as coordinators of cellular catabolism, metabolic signalling and organ physiology Nature reviews Located in Newsroom / Publications A new Caenorhabditis elegans model to study copper toxicity in Wilson disease Traffic Located in Newsroom / Publications Computational drug prediction in hepatoblastoma by integrating pan-cancer transcriptomics with pharmacological response Hepatology Located in Newsroom / Publications TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression The EMBO Journal Located in Newsroom / Publications Genome editing without nucleases confers proliferative advantage to edited hepatocytes and corrects Wilson disease JCI Insight Located in Newsroom / Publications De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling The America Journal of Human Genetics Located in Newsroom / Publications Loss of the batten disease protein CLN3 leadsto mis-trafficking of M6PR and defective autophagic-lysosomal reformation Nature Communications Located in Newsroom / Publications 1 2 3 Next 10 items