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