未登录 Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes 对2135富集的BRCA阴性乳腺癌中罕见的破坏性种系突变的分析排除了其他高影响易感基因 Loveday, C.; Garrett, A.; Law, P.; Hanks, S.; Poyastro-Pearson, E.; Adlard, J. W.; Barwell, J.; Berg, J.; Brady, A. F.; Brewer, C.; Chapman, C.; Cook, J.; Davidson, R.; Donaldson, A.; Douglas, F.; Greenhalgh, L.; Henderson, A.; Izatt, L.; Kumar, A.; Lalloo, F.; Miedzybrodzka, Z.; Morrison, P. J.; Paterson, J.; Porteous, M.; Rogers, M. T.; Walker, L.; Eccles, D.; Evans, D. G.; Snape, K.; Hanson, H.; Houlston, R. S.; Turnbull, C. 分享 收藏
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect Lemmers, Richard J. L. F.; van der Vliet, Patrick J.; Granado, David San Leon; van der Stoep, Nienke; Buermans, Henk; van Schendel, Robin; Schimmel, Joost; de Visser, Marianne; van Coster, Rudy; Jeanpierre, Marc; Laforet, Pascal; Upadhyaya, Meena; van Engelen, Baziel; Sacconi, Sabrina; Tawil, Rabi; Voermans, Nicol C.; Rogers, Mark; van der Maarel, Silvere M. 分享 收藏
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D4F104S1 deletion in facioscapulohumeral muscular dystrophy - Phenotype, size, and detection Lemmers, RJLF; Osborn, M; Haaf, T; Rogers, M; Frants, RR; Padberg, GW; Cooper, DN; van der Maarel, SM; Upadhyaya, M 分享 收藏
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Selective neuronal targeting in prion disease DeArmond, SJ; Sánchez, H; Yehiely, F; Qiu, Y; Ninchak-Casey, A; Daggett, V; Camerino, AP; Cayetano, J; Rogers, M; Groth, D; Torchia, M; Tremblay, P; Scott, MR; Cohen, FE; Prusiner, SB 分享 收藏