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Results: 1-7 |
Results: 7

Authors: Scheffer, H Cobben, JM Matthijs, G Wirth, B
Citation: H. Scheffer et al., Best practice guidelines for molecular analysis in spinal muscular atrophy, EUR J HUM G, 9(7), 2001, pp. 484-491

Authors: Haak, MC Cobben, JM van Vugt, JMG
Citation: Mc. Haak et al., First trimester diagnosis of split hand/foot by transvaginal ultrasound, FETAL DIAGN, 16(3), 2001, pp. 146-149

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
Risultati: 1-7 |