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Clinical Genetics|October 21, 2016
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?S El Chehadeh, R Touraine, F Prieur, et al.Neurogenetics|March 8, 2018
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotypeT Smol, F Petit, A Piton, et al.Pageof 2