Search results

• 2019

  Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

  Onoufriadis, A., Hsu, C. K., Eide, C. R., Nanda, A., Orchard, G. E., Tomita, K., Sheriff, A., Scott, W., Tierney, C., Lee, J. Y. W., Gomaa, N. S., Desomchoke, R., Lwin, S. M., Tu, W. T., Chen, L. Y., Huang, H. Y., Chao, S. C., Yu-Yun Lee, J., Bare, Y., Hayday, T., & 12 othersGuy, A. L., Liu, L., Lees, C., Hirdler, T., Lovell, P., Xia, L., Dayrit, J. F., Calonje, E., Simpson, M. A., Tolar, J., Parsons, M. & McGrath, J. A., 1 Dec 2019, In: Journal of Investigative Dermatology. 139, 12, p. 2550-2554.e9

  Research output: Contribution to journal › Letter › peer-review
  11 Citations (Scopus)
• 2017

  Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex

  Lee, J. Y. W., Liu, L., Hsu, C-K., Aristodemou, S., Ozoemena, L., Ogboli, M., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J. A., 19 Jan 2017, (E-pub ahead of print) In: Journal of Investigative Dermatology. 137, 6, p. 1378-1380

  Research output: Contribution to journal › Letter › peer-review

  Open Access

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  40 Citations (Scopus)

  215 Downloads (Pure)