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Results:
1-7
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Results: 7
Authors:
Ijlst, L
van Roermund, CWT
Iacobazzi, V
Oostheim, W
Ruiter, JPN
Williams, JC
Palmieri, F
Wanders, RJA
Citation: L. Ijlst et al., Functional analysis of mutant human carnitine acylcarnitine translocases in yeast, BIOC BIOP R, 280(3), 2001, pp. 700-706
Authors:
Jira, PE
Wanders, RJA
Smeitink, JAM
De Jong, J
Wevers, RA
Oostheim, W
Tuerlings, JHAM
Hennekam, RCM
Sengers, RCA
Waterham, HR
Citation: Pe. Jira et al., Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome, ANN HUM GEN, 65, 2001, pp. 229-236
Authors:
Den Boer, MEJ
Ijlst, L
Wijburg, FA
Oostheim, W
Van Werkhoven, MA
Van Pampus, MG
Heymans, HSA
Wanders, RJA
Citation: Mej. Den Boer et al., Heterozygosity for the common LCHAD mutation (1528G > C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low, PEDIAT RES, 48(2), 2000, pp. 151-154
Authors:
Waterham, HR
Oostheim, W
Romeijn, GJ
Wanders, RJA
Hennekam, RCM
Citation: Hr. Waterham et al., Incidence and molecular mechanism of aberrant splicing owing to a G -> C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome, J MED GENET, 37(5), 2000, pp. 387-389
Authors:
IJlst, L
de Kromme, I
Oostheim, W
Wanders, RJA
Citation: L. Ijlst et al., Molecular cloning and expression of human L-pipecolate oxidase, BIOC BIOP R, 270(3), 2000, pp. 1101-1105
Authors:
IJlst, L
Oostheim, W
van Werkhoven, M
Willemsen, MAAP
Wanders, RJA
Citation: L. Ijlst et al., Molecular basis of Sjogren-Larsson syndrome: Frequency of the 1297-1298 del GA and 943C -> T mutation in 29 patients, J INH MET D, 22(3), 1999, pp. 319-321
Authors:
de Vet, ECJM
Ijlst, L
Oostheim, W
Dekker, C
Moser, HW
van den Bosch, H
Wanders, RJA
Citation: Ecjm. De Vet et al., Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase proteindeficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities, J LIPID RES, 40(11), 1999, pp. 1998-2003
Risultati:
1-7
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