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Ophthalmic Genetics|September 7, 2012
Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomographyLeo H N Sheck, Callum J Wilson, Andrea L VincentAnnals of Neurology|June 5, 2003
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancyCallum J Wilson, Claudio Priore Oliva, Franco Maggi, et al.Annals of Clinical Biochemistry|January 27, 2012
BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiencyAdrienne M Lynn, Richard I King, Richard J Mackay, et al.Annals of Neurology|June 29, 2005
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemiaVivienne M Homer, Peter M George, Stephen du Toit, et al.Human Mutation|April 23, 2008
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiencyLisa M Bailey, Ruby A Ivanov, Sarawut Jitrapakdee, et al.The Journal of Pediatrics|July 20, 2005
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonatesCallum J Wilson, Michael Myer, Brian A Darlow, et al.American Journal of Human Genetics|May 7, 2005
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiencyBarbara Burwinkel, John W Scott, Christoph Bührer, et al.Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.Nature Genetics|September 7, 2010
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencySarah E Calvo, Elena J Tucker, Alison G Compton, et al.Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.Pageof 1