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Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.Biochimie|January 21, 2021
Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domainGustavo A Bezerra, Alexander Holenstein, William R Foster, et al.American Journal of Human Genetics|July 2, 2021
Shifting landscapes of human MTHFR missense-variant effectsJochen Weile, Nishka Kishore, Song Sun, et al.Human Molecular Genetics|June 27, 2023
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduriaMarie Lucienne, Raffaele Gerlini, Birgit Rathkolb, et al.Nature Metabolism|January 30, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiencyPatrick Forny, Ximena Bonilla, David Lamparter, et al.Pageof 2