20042020

Research output per year

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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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Projects

  • Research Output

    Base Editor Correction of COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Patient-Derived Fibroblasts and iPSCs

    Osborn, M. J., Newby, G. A., McElroy, A. N., Knipping, F., Nielsen, S. C., Riddle, M. J., Xia, L., Chen, W., Eide, C. R., Webber, B. R., Wandall, H. H., Dabelsteen, S., Blazar, B. R., Liu, D. R. & Tolar, J., Feb 2020, In : Journal of Investigative Dermatology. 140, 2, p. 338-347.e5

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

    Kim, Y. M., Yum, M. S., Heo, S. H., Kim, T., Jin, H. K., Bae, J. S., Seo, G. H., Oh, A., Yoon, H. M., Lim, H. T., Kim, H. W., Ko, T. S., Lim, H. S., Osborn, M. J., Tolar, J., Cozma, C., Rolfs, A., Zimran, A., Lee, B. H. & Yoo, H. W., Feb 1 2020, In : Journal of medical genetics. 57, 2, p. 124-131 8 p.

    Research output: Contribution to journalArticle

    Open Access
  • 4 Scopus citations

    Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types

    Kang, E., Kim, Y. M., Seo, G. H., Oh, A., Yoon, H. M., Ra, Y. S., Kim, E. K., Kim, H., Heo, S. H., Kim, G. H., Osborn, M. J., Tolar, J., Yoo, H. W. & Lee, B. H., Jan 1 2020, In : Journal of Human Genetics. 65, 2, p. 79-89 11 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations
    Open Access
  • Donor and host B7-H4 expression negatively regulates acute graft-versus-host disease lethality

    Saha, A., Taylor, P. A., Lees, C. J., Panoskaltsis-Mortari, A., Osborn, M. J., Feser, C. J., Thangavelu, G., Melchinger, W., Refaeli, Y., Hill, G. R., Munn, D. H., Murphy, W. J., Serody, J. S., Maillard, I., Kreymborg, K., van den Brink, M., Dong, C., Huang, S., Zang, X., Allison, J. P. & 2 others, Zeiser, R. & Blazar, B. R., 2019, In : JCI Insight. 4, 19, e127716.

    Research output: Contribution to journalArticle

    Open Access
  • Press / Media