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Journal of Medical Genetics|August 16, 2023
Clinical, genetic and biochemical signatures of RBP4-related ocular malformationsJulie Plaisancié, Jelena Martinovic, Bertrand Chesneau, et al.Redox Biology|April 30, 2024
Development and translation of thiometallate sulfide donors using a porcine model of coronary occlusion and reperfusionThomas W Johnson, James Holt, Anna Kleyman, et al.Journal of the Peripheral Nervous System : JPNS|June 27, 2015
MFN2 deletion of exons 7 and 8: founder mutation in the UK populationAisling S Carr, James M Polke, Jacob Wilson, et al.Nature Communications|November 4, 2020
The HUSH complex is a gatekeeper of type I interferon through epigenetic regulation of LINE-1sHale Tunbak, Rocio Enriquez-Gasca, Christopher H C Tie, et al.The Journal of Pharmacology and Experimental Therapeutics|April 1, 2017
A Genomic DNA Reporter Screen Identifies Squalene Synthase Inhibitors That Act Cooperatively with Statins to Upregulate the Low-Density Lipoprotein ReceptorAlastair G Kerr, Lawrence C S Tam, Ashley B Hale, et al.Frontiers in Cell and Developmental Biology|April 14, 2022
Defects of Nutrient Signaling and Autophagy in NeurodegenerationJon Ondaro, Haizea Hernandez-Eguiazu, Maddi Garciandia-Arcelus, et al.Plos One|July 7, 2015
Potent and Selective Triazole-Based Inhibitors of the Hypoxia-Inducible Factor Prolyl-Hydroxylases with Activity in the Murine BrainMun Chiang Chan, Onur Atasoylu, Emma Hodson, et al.Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.Acta Neuropathologica|September 16, 2024
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosisMónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus, et al.Journal of the American Board of Family Medicine : JABFM|February 9, 2023
Expert Consensus Statement on Proficiency Standards for Dermoscopy Education in Primary CareTiffaney Tran, Peggy R Cyr, Alex Verdieck, et al.Pageof 5