Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Report
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Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor geneOiso, N. ; Mizuno, N. ; Fukai, K. ; Nakagawa, K. ; Ishii, M.British Journal of Dermatology, 2004, Vol.151 (5), p.1084-1086Oxford, UK: Blackwell Science LtdTexto completo disponível |
2 |
Material Type: Report
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Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR geneMégarbané, Hala ; Cluzeau, Céline ; Bodemer, Christine ; Fraïtag, Sylvie ; Chababi-Atallah, Myrna ; Mégarbané, André ; Smahi, AsmaAmerican Journal of Medical Genetics Part A, 2008, Vol.146A (20), p.2657-2662Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
3 |
Material Type: Report
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IgA nephropathy in a patient with IgG lambda light-chain plasmacytoma: a rare coincidenceForslund, Terje ; Sikiö, Anu ; Anttinen, JormaNephrology Dialysis Transplantation, 2007, Vol.22 (9), p.2705-2708Oxford University PressTexto completo disponível |