Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks
- Creator: Kerzendorfer, Claudia , Whibley, Annabel , Carpenter, Gillian , Outwin, Emily , Chiang, Shih-Chieh , Turner, Gillian , Schwartz, Charles , El-Khamisy, Sherif , Raymond, F. Lucy , O'Driscoll, Mark
- Resource Type: journal article
- Date: 2010
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
- Creator: Gilfillan, Gregor D. , Selmer, Kaja K. , Sjøholm, Hans , Server, Andres , Samuelsson, Lena , Christianson, Arnold , Tarpey, Patrick , Whibley, Annabel , Stratton, Michael R. , Futreal, P. Andrew , Teague, Jon , Edkins, Sarah , Roxrud, Ingrid , Gecz, Jozef , Turner, Gillian , Raymond, F. Lucy , Schwartz, Charles , Stevenson, Roger E. , Undlien, Dag E. , Strømme, Petter , Smith, Raffaella , Kyllerman, Mårten , Eiklid, Kristin , Kroken, Mette , Mattingsdal, Morten , Egeland, Thore , Stenmark, Harald
- Resource Type: journal article
- Date: 2008