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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Published in:
Nature Genetics, 2010, v. 42, n. 10, p. 851, doi. 10.1038/ng.659
By:
- Calvo, Sarah E.;
- Tucker, Elena J.;
- Compton, Alison G.;
- Kirby, Denise M.;
- Crawford, Gabriel;
- Burtt, Noel P.;
- Rivas, Manuel;
- Guiducci, Candace;
- Bruno, Damien L.;
- Goldberger, Olga A.;
- Redman, Michelle C.;
- Wiltshire, Esko;
- Wilson, Callum J.;
- Altshuler, David;
- Gabriel, Stacey B.;
- Daly, Mark J.;
- Thorburn, David R.;
- Mootha, Vamsi K.
Publication type:
Article
BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
Published in:
Annals of Clinical Biochemistry, 2012, v. 49, n. 2, p. 201, doi. 10.1258/acb.2011.011180
By:
- Lynn, Adrienne M.;
- King, Richard I.;
- Mackay, Richard J.;
- Florkowski, Chris M.;
- Wilson, Callum J.
Publication type:
Article
Salicylate intoxication from teething gel in infancy.
Published in:
2011
By:
- Williams GD;
- Kirk EP;
- Wilson CJ;
- Meadows CA;
- Chan BS;
- Williams, Gary D;
- Kirk, Edwin P;
- Wilson, Callum J;
- Meadows, Caroline A;
- Chan, Betty S
Publication type:
journal article
Salicylate intoxication from teething gel in infancy.
Published in:
Medical Journal of Australia, 2011, v. 194, n. 3, p. 146, doi. 10.5694/j.1326-5377.2011.tb04201.x
By:
- Williams, Gary D.;
- Kirk, Edwin P.;
- Wilson, Callum J.;
- Meadows, Caroline A.;
- Chan, Betty S.
Publication type:
Article
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.
Published in:
Annals of Neurology, 2005, v. 58, n. 1, p. 160
By:
- Vivienne M. Homer;
- Peter M. George;
- Stephen Du Toit;
- James S. Davidson;
- Callum J. Wilson
Publication type:
Article
Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.
Published in:
Annals of Neurology, 2005, v. 58, n. 1, p. 160
By:
- Vivienne M. Homer;
- Peter M. George;
- Stephen Du Toit;
- James S. Davidson;
- Callum J. Wilson
Publication type:
Article
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy.
Published in:
Annals of Neurology, 2003, v. 53, n. 6, p. 807
By:
- Callum J. Wilson;
- Claudio Priore Oliva;
- Franco Maggi;
- Alberico L. Catapano;
- Sebastiano Calandra
Publication type:
Article
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
Published in:
2006
By:
- Pagnamenta, Alistair T;
- Taanman, Jan-Willem;
- Wilson, Callum J;
- Anderson, Neil E;
- Marotta, Rosetta;
- Duncan, Andrew J;
- Bitner-Glindzicz, Maria;
- Taylor, Robert W;
- Laskowski, Adrienne;
- Thorburn, David R;
- Rahman, Shamima
Publication type:
journal article
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
Published in:
Human Reproduction, 2006, v. 21, n. 10, p. 2467
By:
- Alistair T. Pagnamenta;
- Jan-Willem Taanman;
- Callum J. Wilson;
- Neil E. Anderson;
- Rosetta Marotta;
- Andrew J. Duncan;
- Maria Bitner- Glindzicz;
- Robert W. Taylor;
- Adrienne Laskowski;
- David R. Thorburn;
- Shamima Rahman
Publication type:
Article
Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency.
Published in:
Human Mutation, 2008, v. 29, n. 6, p. E47, doi. 10.1002/humu.20766
By:
- Bailey, Lisa M.;
- Ivanov, Ruby A.;
- Jitrapakdee, Sarawut;
- Wilson, Callum J.;
- Wallace, John C.;
- Polyak, Steven W.
Publication type:
Article
A SURF1 gene mutation presenting as isolated leukodystrophy.
Published in:
2001
By:
- Rahman, Shamina;
- Brown, Ruth M;
- Chong, Wui Khean;
- Wilson, Callum J;
- Brown, Garry K;
- Rahman, S;
- Brown, R M;
- Chong, W K;
- Wilson, C J;
- Brown, G K
Publication type:
journal article

Found: 11