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American Journal of Human Genetics|August 2, 2007
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletionElsebet Ostergaard, Ernst Christensen, Elisabeth Kristensen, et al.Molecular Genetics and Metabolism Reports|March 4, 2016
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutationsKirstine Ravn, Bitten Schönewolf-Greulich, Rikke M Hansen, et al.American Journal of Medical Genetics. Part A|October 14, 2005
Hypertrichosis in patients with SURF1 mutationsElsebet Ostergaard, Irena Bradinova, Susanne Holst Ravn, et al.Acta Paediatrica (Oslo, Norway : 1992)|August 14, 2012
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe IslandsElsebet Ostergaard, Frodi Joensen, Karin Sundberg, et al.Journal of Medical Genetics|May 28, 2011
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndromeElsebet Ostergaard, Richard J Rodenburg, Mariël van den Brand, et al.Journal of Medical Genetics|January 22, 2015
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short statureElsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, et al.Journal of Child Neurology|September 12, 2012
A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle BiopsyOzlem Unal, Diclehan Orhan, Elsebet Ostergaard, et al.Brain Structure & Function|October 3, 2013
Exclusive neuronal expression of SUCLA2 in the human brainArpád Dobolyi, Elsebet Ostergaard, Attila G Bagó, et al.JIMD Reports|February 23, 2013
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase DeficiencyElsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, et al.Brain : a Journal of Neurology|February 9, 2007
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutationsElsebet Ostergaard, Flemming J Hansen, Nicolina Sorensen, et al.Pageof 4