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Molecular Brain|May 12, 2016
rAAV-compatible MiniPromoters for restricted expression in the brain and eyeCharles N de Leeuw, Andrea J Korecki, Garrett E Berry, et al.Nature Communications|April 27, 2018
Characterization of the enhancer and promoter landscape of inflammatory bowel disease from human colon biopsiesMette Boyd, Malte Thodberg, Morana Vitezic, et al.JCI Insight|December 21, 2018
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle functionXiao-Yan Wen, Maja Tarailo-Graovac, Koroboshka Brand-Arzamendi, et al.Molecular Genetics and Metabolism|January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiencyJames J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.American Journal of Human Genetics|July 19, 2011
VPS35 mutations in Parkinson diseaseCarles Vilariño-Güell, Christian Wider, Owen A Ross, et al.Medrxiv : the Preprint Server for Health Sciences|September 19, 2025
Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseMehul Sharma, Simran Samra, Yihui Liu, et al.Plos Computational Biology|March 2, 2018
Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human diseaseJ Kenneth Baillie, Andrew Bretherick, Christopher S Haley, et al.Acta Physiologica (Oxford, England)|February 27, 2026
pH-Dependent Microenvironmental Ionic Signaling in Pancreatic Ductal AdenocarcinomaAlbrecht Schwab, Micol Rugi, Pawel Swietach, et al.Nature Communications|November 7, 2023
Transcriptional reprogramming by mutated IRF4 in lymphomaNikolai Schleussner, Pierre Cauchy, Vedran Franke, et al.American Journal of Human Genetics|August 20, 2019
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related EncephalopathyClara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, et al.Pageof 29