Showing results (71-80 of 153) with videos related to
Sort By:
Pageof 16
Molecular Genetics and Metabolism|June 27, 2006
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIAlistair T Pagnamenta, Iain P Hargreaves, Andrew J Duncan, et al.Belitung Nursing Journal|July 27, 2023
Experiences of front-line nurses caring for patients with COVID-19 in Bangladesh: A qualitative studyMoustaq Karim Khan Rony, Shuvashish Das Bala, Md Moshiur Rahman, et al.European Journal of Medical Genetics|January 13, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variantsRebecca L Poole, Mihaly Badonyi, Alison Cozens, et al.Annals of Neurology|May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome SpectrumElizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.Journal of Pediatric Gastroenterology and Nutrition|August 3, 2016
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver FailurePatrick McKiernan, Sarah Ball, Saikat Santra, et al.Journal of Neurology|October 1, 2014
Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?Olimpia Musumeci, Stefen Brady, Carmelo Rodolico, et al.Human Mutation|October 2, 2008
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan-Willem Taanman, Shamima Rahman, Alistair T Pagnamenta, et al.Epilepsia|June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implicationsOmar Hikmat, Karin Naess, Martin Engvall, et al.Journal of Medical Genetics|March 8, 2011
Kearns-Sayre syndrome caused by defective R1/p53R2 assemblyRobert D S Pitceathly, Elisa Fassone, Jan-Willem Taanman, et al.Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.Pageof 16