Browsing by Author Boycott, Kym

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Issue DateTitleAuthor(s)Citation
2015Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathyNicholson, Garth; Boycott, Kym; Dyment, David; Majewski, Jacek; Micheil Innes, A.; Ng, Andy Cheuk Him; Sawyer, Sarah; Screaton, Robert A.; Tetreault, Martine; Wagner, Justin D.; Concord Clinical School: ANZAC Research InstituteHomozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy, Human Molecular Genetics, vol.24, 18, 2015,pp 5109-5114
2017Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkZankl, Andreas; Baynam, Gareth; Bowman, Faye; Boycott, Kym; et al, Various; Gahl, William; Goldblatt, Jack; Kosaki, Kenjiro; Lister, Karla; Pachter, Nicholas; Walker, Caroline; Childrens Hospital Westmead: Paediatrics & Child HealthImproved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework, Advances in Experimental Medicine and Biology, vol.1031, N/A, 2017,pp 55-94