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Cold Spring Harbor Molecular Case Studies|June 14, 2020
A recurrent de novo <i>HSPD1</i> variant is associated with hypomyelinating leukodystrophyCagla Cömert, Lauren Brick, Debbie Ang, et al.Molecular Genetics and Metabolism|November 11, 2017
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencySigne Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|June 11, 2003
Approval summary: imatinib mesylate capsules for treatment of adult patients with newly diagnosed philadelphia chromosome-positive chronic myelogenous leukemia in chronic phaseJohn R Johnson, Peter Bross, Martin Cohen, et al.Plos One|December 11, 2012
Identification of elements that dictate the specificity of mitochondrial Hsp60 for its co-chaperoninAvital Parnas, Shahar Nisemblat, Celeste Weiss, et al.Journal of Inherited Metabolic Disease|January 11, 2012
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allelePeter Bross, Jane B Frederiksen, Anne S Bie, et al.Plos One|September 9, 2014
Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centreBárbara J Henriques, Tânia G Lucas, João V Rodrigues, et al.Physical Review Letters|January 30, 2016
On-Demand Single Photons with High Extraction Efficiency and Near-Unity Indistinguishability from a Resonantly Driven Quantum Dot in a MicropillarXing Ding, Yu He, Z-C Duan, et al.Cell Chemical Biology|August 19, 2017
Ketone Body Acetoacetate Buffers Methylglyoxal via a Non-enzymatic Conversion during Diabetic and Dietary KetosisTrine Salomón, Christian Sibbersen, Jakob Hansen, et al.Human Molecular Genetics|June 4, 2013
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiencyNanna Cornelius, Colleen Byron, Iain Hargreaves, et al.Ugeskrift for Laeger|July 4, 2019
[Myalgic encephalomyelitis or chronic fatigue syndrome]Louise Brinth, Henrik Nielsen, Kim Varming, et al.Pageof 21