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Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. [electronic resource] by
- Gootjes, Jeannette
- Schmohl, Frank
- Mooijer, Petra A W
- Dekker, Conny
- Mandel, Hanna
- Topcu, Meral
- Huemer, Martina
- Von Schütz, M
- Marquardt, Thorsten
- Smeitink, Jan A
- Waterham, Hans R
- Wanders, Ronald J A
Producer: 20041025
In:
Human mutation vol. 24
Availability: No items available.
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Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. [electronic resource] by
- Ebberink, Merel S
- Mooyer, Petra A W
- Koster, Janet
- Dekker, Conny J M
- Eyskens, François J M
- Dionisi-Vici, Carlo
- Clayton, Peter T
- Barth, Peter G
- Wanders, Ronald J A
- Waterham, Hans R
Producer: 20090317
In:
Human mutation vol. 30
Availability: No items available.
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Clinical and biochemical spectrum of D-bifunctional protein deficiency. [electronic resource] by
- Ferdinandusse, Sacha
- Denis, Simone
- Mooyer, Petra A W
- Dekker, Conny
- Duran, Marinus
- Soorani-Lunsing, Roelineke J
- Boltshauser, Eugen
- Macaya, Alfons
- Gärtner, Jutta
- Majoie, Charles B L M
- Barth, Peter G
- Wanders, Ronald J A
- Poll-The, Bwee Tien
Producer: 20060323
In:
Annals of neurology vol. 59
Availability: No items available.
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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. [electronic resource] by
- Ebberink, Merel S
- Csanyi, Barbara
- Chong, Wui K
- Denis, Simone
- Sharp, Peter
- Mooijer, Petra A W
- Dekker, Conny J M
- Spooner, Claire
- Ngu, Lock H
- De Sousa, Carlos
- Wanders, Ronald J A
- Fietz, Michael J
- Clayton, Peter T
- Waterham, Hans R
- Ferdinandusse, Sacha
Producer: 20101215
In:
Journal of medical genetics vol. 47
Availability: No items available.
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