• 3369 Citations
  • 18 h-Index
20082019
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Research Output 2008 2019

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Letter
2017
7 Citations (Scopus)
65 Downloads (Pure)

Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease

Wilson, N. J., Cole, C., Kroboth, K., Hunter, W. N., Mann, J. A., Irwin McLean, W. H., Kernland Lang, K., Beltraminelli, H., Sabroe, R. A., Tiffin, N., Sobey, G. J., Borradori, L., Simpson, E. & Smith, F. J. D., Jan 2017, In : British Journal of Dermatology. 176, 1, p. 270-274 5 p.

Research output: Contribution to journalLetter

Open Access
File
Glucosyltransferases
Genetic Databases
Mutation
Proteins
Keratin-5
2015
9 Citations (Scopus)

Expanding the phenotypic spectrum of Olmsted syndrome

Wilson, N. J., Cole, C., Milstone, L. M., Kiszewski, A. E., Hansen, C. D., O'Toole, E. A., Schwartz, M. E., McLean, W. H. I. & Smith, F. J. D., Nov 2015, In : Journal of Investigative Dermatology. 135, 11, p. 2879-2883 5 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)
88 Downloads (Pure)

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., Mclean, W. H. I., Munro, C. S. & Zamiri, M., 26 Nov 2015, In : British Journal of Dermatology. 173, 5, p. 1292-1294 4 p.

Research output: Contribution to journalLetter

Open Access
File