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Results for Joubert syndrome

Publications & Outputs

  1. Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

    De Goede, C., Yue, W. W., Yan, G., Ariyaratnam, S., Chandler, K. E., Downes, L., Khan, N., Mohan, M., Lowe, M. & Banka, S., 03/2016, In : European Journal of Paediatric Neurology. 20, 2, p. 286-295 10 p.

    Research output: Contribution to journalJournal article