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Results: 1-5 |
Results: 5

Authors: Aradhya, S Woffendin, H Jakins, T Bardaro, T Esposito, T Smahi, A Shaw, C Levy, M Munnich, A D'Urso, M Lewis, RA Kenwrick, S Nelson, DL
Citation: S. Aradhya et al., A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations, HUM MOL GEN, 10(19), 2001, pp. 2171-2179

Authors: Mansour, S Woffendin, H Mitton, S Jeffery, I Jakins, T Kenwrick, S Murday, VA
Citation: S. Mansour et al., Rapid publication - Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection, AM J MED G, 99(2), 2001, pp. 172-177

Authors: Kenwrick, S Woffendin, H Jakins, T Shuttleworth, SG Mayer, E Greenhalgh, L Whittaker, J Rugolotto, S Bardaro, T Esposito, T D'Urso, M Soli, F Turco, A Smahi, A Hamel-Teillac, D Lyonnet, S Bonnefont, JP Munnich, A Aradhya, S Kashork, CD Shaffer, LG Nelson, DL Levy, M Lewis, RA
Citation: S. Kenwrick et al., Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome, AM J HU GEN, 69(6), 2001, pp. 1210-1217

Authors: Woffendin, H Esposito, T Jakins, T Bardaro, T Stern, MH Kenwrick, S
Citation: H. Woffendin et al., Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti, EUR J HUM G, 8(4), 2000, pp. 239-240

Authors: Woffendin, H Jakins, T Jouet, M Stewart, H Landy, S Haan, E Harris, A Donnai, D Read, A Kenwrick, S
Citation: H. Woffendin et al., X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation, CLIN GENET, 55(1), 1999, pp. 55-60
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