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Proceedings of the National Academy of Sciences of the United States of America|October 20, 2019
Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical developmentTeresa G Krieger, Carla M Moran, Alberto Frangini, et al.Nature Communications|June 16, 2026
Disease-associated genetic variants can cause missense effects in tissue-specific protein isoformsGiovanna Weykopf, Mihaly Badonyi, Elias T Friman, et al.Human Molecular Genetics|July 3, 2015
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPTTeresa Sposito, Elisavet Preza, Colin J Mahoney, et al.Genome Biology|April 15, 2025
Guidelines for releasing a variant effect predictorBenjamin J Livesey, Mihaly Badonyi, Mafalda Dias, et al.Arxiv|May 3, 2024
Guidelines for releasing a variant effect predictorBenjamin J Livesey, Mihaly Badonyi, Mafalda Dias, et al.Journal of Internal Medicine|January 25, 2003
A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosisE Cadet, D Capron, A S Perez, et al.Nature Medicine|July 5, 2022
Longitudinal dynamics of clonal hematopoiesis identifies gene-specific fitness effectsNeil A Robertson, Eric Latorre-Crespo, Maria Terradas-Terradas, et al.Nature Methods|April 28, 2015
G&T-seq: parallel sequencing of single-cell genomes and transcriptomesIain C Macaulay, Wilfried Haerty, Parveen Kumar, et al.Nature|September 1, 2015
η-Secretase processing of APP inhibits neuronal activity in the hippocampusMichael Willem, Sabina Tahirovic, Marc Aurel Busche, et al.Stem Cell Reports|November 28, 2015
Creating Patient-Specific Neural Cells for the In Vitro Study of Brain DisordersKristen J Brennand, M Carol Marchetto, Nissim Benvenisty, et al.Pageof 24