Showing results (61-70 of 107) with videos related to

Sort By:
Pageof 11
Nature Communications|September 29, 2018
RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesisUwe Richter, Molly E Evans, Wesley C Clark, et al.
The Journal of Pediatrics|August 23, 2020
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory ChainKarin Naess, Helene Bruhn, Henrik Stranneheim, et al.
Diabetes|February 14, 2019
Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on PyruvateYurika Katsu-Jiménez, Carmela Vázquez-Calvo, Camilla Maffezzini, et al.
Journal of Internal Medicine|May 22, 2023
Precision medicine in rare diseases: What is next?Bianca Tesi, Catherine Boileau, Kym M Boycott, et al.
The New England Journal of Medicine|July 31, 2009
AGC1 deficiency associated with global cerebral hypomyelinationRolf Wibom, Francesco M Lasorsa, Virpi Töhönen, et al.
EMBO Molecular Medicine|June 12, 2020
FBXL4 deficiency increases mitochondrial removal by autophagyDavid Alsina, Oleksandr Lytovchenko, Aleksandra Schab, et al.
International Journal of Neonatal Screening|August 27, 2021
First Year of TREC-Based National SCID Screening in SwedenChristina Göngrich, Olov Ekwall, Mikael Sundin, et al.
Molecular Genetics and Metabolism|May 30, 2017
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeuticsDiran Herebian, Annette Seibt, Sander H J Smits, et al.
Journal of Inherited Metabolic Disease|September 28, 2016
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disordersIvo Barić, Christian Staufner, Persephone Augoustides-Savvopoulou, et al.
Molecular Genetics & Genomic Medicine|March 29, 2019
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathyCamilla Maffezzini, Isabelle Laine, Cristina Dallabona, et al.
Pageof 11