Taschner, Peter E.M.
Leiden University Medical Center
3 papers on CoChatORCID 0000-0001-9621-465X
Most cited papers
- Verified
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., Mey, A. V. D., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., et al. (2000) · Science
Adrenal and Paraganglionic TumorsEar and Head Tumors
Cited by 1,638
- Verified
Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., et al. (1999) · The American Journal of Human Genetics
Genomics and Rare DiseasesCongenital limb and hand anomalies
Cited by 152
- Verified
Describing structural changes by extending HGVS sequence variation nomenclature
Taschner, P. E. M., & den Dunnen, J. T. (2011) · Human Mutation
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities
Cited by 61
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