Browsing by Author Thompson, Elizabeth M.

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Issue DateTitleAuthor(s)Citation
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2006Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.Christodoulou, John; Vasudevan, V; Williamson, Sarah; de Lagarde, D.; Leonard, Helen; Macleod, P.; Ravine, David; Saxena, Alka; Thompson, Elizabeth M.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthLost in translation: translational interference from a recurrent mutation in exon 1 of MECP2., Journal of Medical Genetics 2005, vol.43,(6),2006,pp 470-477
2012Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 yearsSillence, David; Ault, Jenny E.; Donaghey, Samantha; Ireland, Penelope Jane; Johnson, Sarah; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, Elizabeth M.; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthMedical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years, Journal of Paediatrics and Child Health, vol.48, 5, 2012,pp 443-449
2011TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesAlcausin, Melanie; Sillence, David; Aftimos, Salim; Andreucci, Elena; Haan, Eric; Hunter, Warwick; Kannu, Peter; Kerr, Bronwyn; Lamande, Shireen R.; McGillivray, G; McKinlay Gardner, R J; Patricelli, Maria; Savarirayan, Ravi; Thompson, Elizabeth M.; Zacharin, Margaret R.; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families, Orphanet Journal of Rare Diseases, vol.6, 1, 2011,pp Article number 37-1-Article number 37-8