Browsing by Author Royal Victoria Infirm

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Issue DateTitleAuthor(s)
26-Feb-2009Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromesSalzer, Ulrich; Bacchelli, Chiara; Buckridge, Sylvie; Pan-Hammarstrom, Qiang; Jennings, Stephanie; Lougaris, Vassilis; Bergbreiter, Astrid; Hagena, Tina; Birmelin, Jennifer; Plebani, Alessandro; Webster, A. David B.; Peter, Hans-Hartmut; Suez, Daniel; Chapel, Helen; McLean-Tooke, Andrew; Spickett, Gavin P.; Anover-Sombke, Stephanie; Ochs, Hans D.; Urschel, Simon; Belohradsky, Bernd H.; Ugrinovic, Sanja; Kumararatne, Dinakantha S.; Lawrence, Tatiana C. [UNIFESP]; Holm, Are M.; Franco, Jose L.; Schulze, Ilka; Schneider, Pascal; Gertz, E. Michael; Schaffer, Alejandro A.; Hammarstrom, Lennart; Thrasher, Adrian J.; Gaspar, H. Bobby; Grimbacher, Bodo; Univ Hosp Freiburg; Inst Child Hlth; Karolinska Univ Hosp Huddinge; Univ Brescia; Spedali Civil Brescia; Royal Free Hosp; UCL; Allergy Asthma & Immunol Clin; Oxford Radcliffe Hosp; Royal Victoria Infirm; Univ Washington; Childrens Hosp; Univ Munich; Addenbrookes Hosp; Universidade Federal de São Paulo (UNIFESP); Univ Oslo; Univ Antioquia; Charite Humboldt Univ; Univ Lausanne; Natl Lib Med
15-Dec-2010Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathyHudson, Gavin; Yu-Wai-Man, Patrick; Griffiths, Phillip G.; Caporali, Leonardo; Salomão, Solange Rios [UNIFESP]; Berezovsky, Adriana [UNIFESP]; Carelli, Valerio; Zeviani, Massimo; Chinnery, Patrick F.; Newcastle Univ; Royal Victoria Infirm; Univ Bologna; Universidade Federal de São Paulo (UNIFESP); Fdn Neurol Inst C Besta