Filter the results Item type Select All/None News Item Researcher Page Publication File Event Image Folder Collection New items since Yesterday Last week Last month Ever Search results Subscribe to an always-updated RSS feed. 26 items matching your search terms. Sort by relevance date (newest first) alphabetically Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association Human Genetics Located in Newsroom / Publications Analysis of inhibitors of the anoctamin-1 chloride channel (transmembrane member 16A, TMEM16A) reveals indirect mechanisms involving alterations in calcium signalling Br J Pharmacol Located in Newsroom / Publications New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency Journal of Inherited Metabolic Disease Located in Newsroom / Publications Liver-directed gene therapy for ornithine aminotransferase deficiency EMBO Mol Med Located in Newsroom / Publications Pharmacological potentiators of the calcium signaling cascade identified by high-throughput screening PNAS Nexus Located in Newsroom / Publications Esrrb guides naive pluripotent cells through the formative transcriptional programme Nature Cell Biology Located in Newsroom / Publications Cellular population dynamics shape the route to human pluripotency Nature Communications Located in Newsroom / Publications Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin Molecular Therapy Located in Newsroom / Publications A new Caenorhabditis elegans model to study copper toxicity in Wilson disease Traffic Located in Newsroom / Publications 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 1 2 3 Next 10 items
