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American Journal of Epidemiology|October 6, 2017
Incorporation of Biological Knowledge Into the Study of Gene-Environment InteractionsMarylyn D Ritchie, Joe R Davis, Hugues Aschard, et al.
Human Mutation|March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsyKristin D Kernohan, Laure Frésard, Zachary Zappala, et al.
Cell Reports|June 18, 2025
The evolutionarily conserved PRP4K-CHMP4B/vps32 splicing circuit regulates autophagySabateeshan Mathavarajah, Sandhya Chipurupalli, Elias B Habib, et al.
Orphanet Journal of Rare Diseases|September 28, 2024
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesClara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, et al.
Genome Biology|November 6, 2019
Genetic regulation of gene expression and splicing during a 10-year period of human agingBrunilda Balliu, Matthew Durrant, Olivia de Goede, et al.
Scientific Reports|March 24, 2017
PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4Jayme Salsman, Alex Stathakis, Ellen Parker, et al.
Cell|September 17, 2021
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolutionDustin Griesemer, James R Xue, Steven K Reilly, et al.
Plos Genetics|November 17, 2018
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locusVivek Nanda, Ting Wang, Milos Pjanic, et al.
Genome Research|March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
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