Ghent University Academic Bibliography

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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Arnaud Vanlander (UGent) , Björn Menten (UGent) , Joél Smet (UGent) , Linda De Meirleir, Tom Sante (UGent) , Boel De Paepe (UGent) , Sara Seneca, Sarah F Pearce, Christopher A Powell, Sarah Vergult (UGent) , et al.

(2015) HUMAN MUTATION. 36(2). p.222-231
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Sara Seneca, Kim Vancampenhout, Rudy Van Coster (UGent) , Joél Smet (UGent) , Willy Lissens, Arnaud Vanlander (UGent) , Boel De Paepe (UGent) , An Jonckheere, Katrien Stouffs and Linda De Meirleir

(2015) EUROPEAN JOURNAL OF HUMAN GENETICS. 23(1). p.41-48
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Ajit Bolar, Arnaud Vanlander (UGent) , Claudia Wilbrecht, Nathalie Van der Aa, Joél Smet (UGent) , Boel De Paepe (UGent) , Geert Vandeweyer, Frank Kooy, François Eyskens, Elien De Latter (UGent) , et al.

(2013) HUMAN MOLECULAR GENETICS. 22(13). p.2590-2602
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Arnaud Vanlander (UGent) , PG Jorens, Joél Smet (UGent) , Boel De Paepe (UGent) , W Verbrugghe, GG Van den Eynden, F Meire, P Pauwels, N Van der Aa, S Seneca, et al.

(2012) ACTA ANAESTHESIOLOGICA SCANDINAVICA. 56(4). p.520-525
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- Journal Article
- A1
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

Joél Smet (UGent) , Sara Seneca, Boel De Paepe (UGent) , Ann Meulemans, Helene Verhelst (UGent) , Juliaan Leroy (UGent) , Linda De Meirleir, Willy Lissens and Rudy Van Coster (UGent)

(2009) ELECTROPHORESIS. 30(20). p.3565-3572

Academic Bibliography

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

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