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Neurology|November 14, 2008
A novel Refsum-like disorder that maps to chromosome 20T Fiskerstrand, P Knappskog, J Majewski, et al.Cerebellum (London, England)|May 12, 2016
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and EdemaC Tzoulis, Paweł Sztromwasser, Stefan Johansson, et al.American Journal of Human Genetics|January 9, 2004
Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selectionJ L Elson, D M Turnbull, Neil HowellAnnals of Clinical Biochemistry|July 27, 2001
The ischaemic lactate-ammonia testC Livingstone, P F Chinnery, D M TurnbullPostgraduate Medical Journal|September 1, 1981
Anorexia nervosa, liquorice and hypokalaemic myopathyS Nightingale, P E Smith, D M TurnbullGene|April 27, 1999
Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCRZ M Chrzanowska-Lightowlers, R J Temperley, A McGregor, et al.American Journal of Human Genetics|June 1, 1997
Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changesS K Bidooki, M A Johnson, Z Chrzanowska-Lightowlers, et al.Clinical Chemistry|December 1, 1994
Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disordersM Pourfarzam, J Schaefer, D M Turnbull, et al.Annals of Neurology|February 1, 1997
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndromeP L Adams, R N Lightowlers, D M TurnbullBiochemical and Biophysical Research Communications|September 5, 1995
Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydrataseS Jackson, J Schaefer, B Middleton, et al.Pageof 22