Browsing by Author Yendle, Simone

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Issue DateTitleAuthor(s)Citation
2010Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related DisordersBennetts, Bruce; Christodoulou, John; Cloosterman, Desiree; Ellaway, Carolyn; Ho, Gladys; White, Rose; Bienvenu, Thierry; Cox, Timothy; Darmanian, Artur; Fischer, Alexandra; Fullston, Tod; Gecz, Jozef; Kalra, Veena; Nectoux, Juliette; Scheffer, Ingrid; Schmidt, Swetlana; Tong, Xing Zhang; Yendle, Simone; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Central Clinical School: OfficeCyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders, Twin Research and Human Genetics, vol.13, 2,pp 168-178
2013Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1Bleasel, Andrew; Afawi, Zaid; Andrade, Danielle M; Berkovic, Samuel F.; Bye, Ann M. E.; Calvert, Sophie; Carvill, Gemma L; Cook, Joseph; Dorschner, Michael O; Freeman, Jeremy L; Gill, D S; Heavin, Sinead; Howell, Katherine B; Khan, Adiba; Kivity, Sara; Korczyn, Amos; Lerman-Sagie, Tally; Lev, Dorit; Møller2, Rikke S; Mackay, Mark; Malone, Stephen; McMahon, Jacinta; Mefford, Heather; O’Roak, Brian J; Rodriguez-Casero, Victoria; Sadleir, Lynette; Scheffer, Ingrid; Shendure, Jay; Stanley, Thorsten; Wallace, Geoffrey; Weaver, Molly; Webster, Richard; Yendle, Simone; Zelnick, Nathanel; Deans Unit: (CIPHER)Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1, Nature Genetics, vol.45, 7, 2013,pp 825-830