Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
E. Harris, A. Topf, R. Barresi, J. Hudson, H. Powell, J. Tellez, D. Hicks, Anna Porter, M. Bertoli, T. Evangelista, Chiara Marini-Betollo, O. Magnusson, M. Lek, D. MacArthur, K. Bushby, H. Lochmüller, V. Straub
Orphanet Journal of Rare Diseases