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Article

Shukla, A. and Das Bhowmik, A. and Hebbar, Malavika and Rajagopal, K.V. and Girisha, K.M. and Gupta, N. and Dalal, Ashwin (2018) Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. Journal of Human Genetics, 63 (1). pp. 19-25. ISSN 1434-5161

Hebbar, Malavika and Harsha Prasada, L. and Das Bhowmik, A. and Trujillano, D. and Shukla, A. and Chakraborti, Shrijeet and Kandaswamy, K.K. and Rolfs, A. and Kamath, N. and Dalal, Ashwin and Bielas, S. and Girisha, K.M. (2016) Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. American Journal of Medical Genetics Part A, 170 (9). pp. 2486-2489. ISSN 1552-4825

This list was generated on Wed Dec 8 18:04:23 2021 IST.