Authors:
Veldink, JH
van den Berg, LH
Cobben, JM
Stulp, RP
De Jong, JMBV
Vogels, OJ
Baas, F
Wokke, JHJ
Scheffer, H
Citation: Jh. Veldink et al., Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS, NEUROLOGY, 56(6), 2001, pp. 749-753
Authors:
Scheffer, H
Cobben, JM
Mensink, RGJ
Stulp, RP
van der Steege, G
Buys, CHCM
Citation: H. Scheffer et al., SMA carrier testing - validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion, EUR J HUM G, 8(2), 2000, pp. 79-86
Authors:
Blanck, C
Kohlhase, J
Engels, P
Burfeind, P
Engel, W
Bottani, A
Patel, MS
Kroes, HY
Cobben, JM
Citation: C. Blanck et al., Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome, J MED GENET, 37(4), 2000, pp. 303-307
Authors:
Jongbloed, RJE
Wilde, AAM
Geelen, JLMC
Doevendans, F
Schaap, C
Van Langen, I
van Tintelen, JP
Cobben, JM
Beaufort-Krol, GCM
Geraedts, JPM
Smeets, HJM
Citation: Rje. Jongbloed et al., Novel KCNQ1 and HERG missense mutations in Dutch long-QT families (vol 13,pg 301, 1998), HUM MUTAT, 14(1), 1999, pp. 86-86
Authors:
Jongbloed, RJE
Wilde, AAM
Geelen, JLMC
Doevendans, P
Schaap, C
Van Langen, I
van Tintelen, JP
Cobben, JM
Beaufort-Krol, GCM
Geraedts, JPM
Smeets, HJM
Citation: Rje. Jongbloed et al., Novel KCNQ1 and HERG missense mutations in Dutch long-QT families, HUM MUTAT, 13(4), 1999, pp. 301-310