Browsing by Author Gornall, Hannah

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Issue DateTitleAuthor(s)Citation
2015Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Dale, Russell; Anderson, Beverley; Chase, Diana S; Crow, Yanick J.; et al, Various; Forte, Gabriella M A; Gornall, Hannah; Helman, Guy; Oojageer, Anthony; Pizzino, Amy; Schmidt, Johanna Lowenstein; Szynkiewicz, Marcin; Childrens Hospital Westmead: Paediatrics & Child HealthCharacterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1, American Journal of Medical Genetics. Part A, vol.167A, 2, 2015,pp 296-312
2010Familial Aicardi–Goutières Syndrome Due to SAMHD1 Mutations Is Associated With Chronic Arthropathy and ContracturesDale, Russell; Liberty B. Alcausin, Maria Melanie; Singh-Grewal, Davinder; Crow, Yanick J.; Gornall, Hannah; Rice, Gillian I.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthFamilial Aicardi–Goutières Syndrome Due to SAMHD1 Mutations Is Associated With Chronic Arthropathy and Contractures, American Journal of Medical Genetics. Part A, vol.152A, 4,pp 938-942