Browsing by Author Carss, Keren J

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Issue DateTitleAuthor(s)Citation
2017GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcomeDale, Russell; Mohammad, Shekeeb; Shah, Ubaid; Bianchini, Claudia; Carss, Keren J; Danti, Federica Rachele; et al, Various; Galosi, Serena; McShane, Tony; Montomoli, Martino; Parrini, Elena; Raymond, F. Lucy; Romani, Marta; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child HealthGNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome, Neurology: Genetics, vol.3, 2, 2017,pp 1-8
2013Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-DystroglycanNorth, Kathryn; Young, Helen; Carss, Keren J; Cirak, Sebahattin; et al, Various; Foley, A Reghan; Hoischen, Alexander; Moore, Steven A; Riemersma, Moniek; Stevens, Elizabeth; Torelli, Silvia; Van Scherpenzeel, Monique; Willer, Tobias; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan, American Journal of Human Genetics, vol.93, 1, 2013,pp 29-41
2014De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual DisabilityWilson, Meredith; Archer, Hayley; Canham, Natalie; Carss, Keren J; et al, Various; Firth, Helen; Grozeva, Detelina; Hackett, Anna; Holder, Susan; Park, Soo-Mi; Parker, Michael; Spasic-Boskovic, Olivera; Childrens Hospital Westmead: Paediatrics & Child HealthDe Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability, American Journal of Human Genetics, vol.94, 4, 2014,pp 618-624