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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

H. Scheffer

Department of Medical Genetics

University of Groningen



Name/email consistency: high



  • Department of Medical Genetics, University of Groningen, Netherlands. 1997 - 2000


  1. 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. Scheffer, H., Cobben, J.M., Mensink, R.G., Stulp, R.P., van der Steege, G., Buys, C.H. Eur. J. Hum. Genet. (2000) [Pubmed]
  2. Three novel KCNA1 mutations in episodic ataxia type I families. Scheffer, H., Brunt, E.R., Mol, G.J., van der Vlies, P., Stulp, R.P., Verlind, E., Mantel, G., Averyanov, Y.N., Hofstra, R.M., Buys, C.H. Hum. Genet. (1998) [Pubmed]
  3. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa. Scheffer, H., Stulp, R.P., Verlind, E., van der Meulen, M., Bruckner-Tuderman, L., Gedde-Dahl, T., te Meerman, G.J., Sonnenberg, A., Buys, C.H., Jonkman, M.F. Hum. Genet. (1997) [Pubmed]
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