Research output per year
Research output per year
Fingerprint
The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.
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Research output
- 2 Article
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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Stafki, S. A., Turner, J., Littel, H. R., Bruels, C. C., Truong, D., Knirsch, U., Stettner, G. M., Graf, U., Berger, W., Kinali, M., Jungbluth, H., Pacak, C. A., Hughes, J., Mirchi, A., Derksen, A., Vincent-Delorme, C., Theil, A. F., Bernard, G., Ellis, D., Fassihi, H., & 4 others, Apr 2023, In: Pediatric Neurology. 141, p. 79-86 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy
Bruels, C. C., Littel, H. R., Daugherty, A. L., Stafki, S., Estrella, E. A., McGaughy, E. S., Truong, D., Badalamenti, J. P., Pais, L., Ganesh, V. S., O'Donnell-Luria, A., Stalker, H. J., Wang, Y., Collins, C., Behlmann, A., Lemmers, R. J. L. F., van der Maarel, S. M., Laine, R., Ghosh, P. S., Darras, B. T., & 4 others, Aug 2022, In: Annals of Clinical and Translational Neurology. 9, 8, p. 1302-1309 8 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations