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Items where Author is "Uitto, Jouni"
Group by: Item Type | No Grouping Number of items: 3. Szeri, Flora and Verschuere, Shana and Navasiolava, Nastassia and Kaposi, Ambrus and Verschuere, Shana and Molnar, Beatrix and Li, Qiaoli and Terry, Sharon F. and Boraldi, Federica and Uitto, Jouni and van de Wetering, Koen and Martin, Ludovic and Quaglino, Daniela and Vanakker, Olivier M. and Tory, Kalman and Aranyi, Tamas (2022) The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Human Mutation. ISSN 1059-7794 (print), 1098-1004 (online) Uitto, Jouni and Jiang, Qiujie and Váradi, András and Bercovitch, Lionel G. and Terry, Sharon F. (2014) Pseudoxanthoma elasticum: Diagnostic features, classification and treatment options. EXPERT OPINION ON ORPHAN DRUGS, 2 (6). pp. 567-577. ISSN 2167-8707 Uitto, Jouni and Váradi, András and Bercovitch, Lionel (2013) Pseudoxanthoma elasticum: Progress in research toward treatment: Summary of the 2012 PXE international research meeting. Journal of Investigative Dermatology, 133 (6). pp. 1444-1449. ISSN 0022-202X |
