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New pattern of brain MRI lesions in isolated complex I deficiency. [electronic resource] by
- Wolf, N I
- Seitz, A
- Harting, I
- Smeitink, J A M
- Trijbels, F
- van den Heuvel, L P
- Schlemmer, H
- Ebinger, F
- Evert, W
- Rating, D
Producer: 20031010
In:
Neuropediatrics vol. 34
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22.
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Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. [electronic resource] by
- Wortmann, S
- Rodenburg, R J T
- Huizing, M
- Loupatty, F J
- de Koning, T
- Kluijtmans, L A J
- Engelke, U
- Wevers, R
- Smeitink, J A M
- Morava, E
Producer: 20060630
In:
Molecular genetics and metabolism vol. 88
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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. [electronic resource] by
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- Chan, S H-S
- Wong, V C-N
- Hellebrekers, D M E
- de Coo, I F M
- Smeitink, J A M
- Rodenburg, R J T
- Nijtmans, L G J
Producer: 20180806
In:
Clinical genetics vol. 93
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29.
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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. [electronic resource] by
- Koene, S
- Rodenburg, R J
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- Willemsen, M A A P
- Sperl, W
- Laugel, V
- Ostergaard, E
- Tarnopolsky, M
- Martin, M A
- Nesbitt, V
- Fletcher, J
- Edvardson, S
- Procaccio, V
- Slama, A
- van den Heuvel, L P W J
- Smeitink, J A M
Producer: 20130404
In:
Journal of inherited metabolic disease vol. 35
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30.
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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. [electronic resource] by
- Jonckheere, A I
- Hogeveen, M
- Nijtmans, L G J
- van den Brand, M A M
- Janssen, A J M
- Diepstra, J H S
- van den Brandt, F C A
- van den Heuvel, L P
- Hol, F A
- Hofste, T G J
- Kapusta, L
- Dillmann, U
- Shamdeen, M G
- Smeitink, J A M
- Rodenburg, R J T
Producer: 20080403
In:
Journal of medical genetics vol. 45
Availability: No items available.
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