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He serves on the education committee of the Human Genetics Society of Australasia, the International Nomenclature Committee for Constitutional Disorders of the Skeletal, the International Mucopolysaccharidosis type I expert committee, the National Fabry Disease and MPS expert committees for the LSDP. David Sillence’s current research interests include a) Genetics and treatment of osteopenic and other metabolic bone disorders of childhood, b) Characterization of the molecular genetics and pathogenesis of specific skeletal birth defects in mouse and man, c) Consanguinity and paediatric morbidity/population genetics of consanguinity in Middle Eastern Populations, d) Evaluation of Innovative Genetic Therapies. These studies are being undertaken with a range of collaborators from within the Children’s Hospital at Westmead, the research institutes in Sydney and with overseas geneticists.
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论文共 16 篇作者统计合作学者相似作者
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Journal of Inherited Metabolic Diseaseno. 2 (2011): 547-548
Katherine R. Neas, Janine M. Smith, Nicole Chia, Suna Huseyin,Luke St Heaps, Greg Peters,Gary Sholler, Dimitra Tzioumi,David O. Sillence, David Mowat
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