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Results: 1-4 |
Results: 4

Authors: Okhuijsen-Kroes, EJ Trijbels, JMF Sengers, RCA Mariman, E van den Heuvel, LP Wendel, U Koch, G Smeitink, JAM
Citation: Ej. Okhuijsen-kroes et al., Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation, NEUROPEDIAT, 32(4), 2001, pp. 183-190

Authors: Ion, A Crosby, AH Kremer, H Kenmochi, N Van Reen, M Fenske, C Van der Burgt, I Brunner, HG Montgomery, K Kucherlapati, RS Patton, MA Page, DC Mariman, E Jeffery, S
Citation: A. Ion et al., Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6, J MED GENET, 37(11), 2000, pp. 884-886

Authors: Schuelke, M Smeitink, J Mariman, E Loeffen, J Plecko, B Trijbels, F Stockler-Ipsiroglu, S van den Heuvel, L
Citation: M. Schuelke et al., Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy, NAT GENET, 21(3), 1999, pp. 260-261

Authors: Gabreels-Festen, A van Beersum, S Eshuis, L LeGuern, E Gabreels, F van Engelen, B Mariman, E
Citation: A. Gabreels-festen et al., Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33, J NE NE PSY, 66(5), 1999, pp. 569-574
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