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Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.Nature Communications|May 25, 2022
Serotonin limits generation of chromaffin cells during adrenal organ developmentPolina Kameneva, Victoria I Melnikova, Maria Eleni Kastriti, et al.Elife|April 18, 2017
Oriented clonal cell dynamics enables accurate growth and shaping of vertebrate cartilageMarketa Kaucka, Tomas Zikmund, Marketa Tesarova, et al.Mitochondrion|November 14, 2018
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohortDorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Anna Sułek, et al.Brain : a Journal of Neurology|November 14, 2025
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophyClaudio Fiorini, Neringa Jurkute, Alessandra Torraco, et al.Nature Communications|May 29, 2023
A previously uncharacterized Factor Associated with Metabolism and Energy (FAME/C14orf105/CCDC198/1700011H14Rik) is related to evolutionary adaptation, energy balance, and kidney physiologyJulian Petersen, Lukas Englmaier, Artem V Artemov, et al.Pageof 5