Group by: Item Type | No Grouping Jump to: Article Number of items: 3. ArticleDivya, Pasumarthi and Gupta, N. and Sheth, J. and Jain, J.M.N. and Rungsung, I. and Kabra, M. and Ranganath, Prajnya and Aggarwal, Shagun and Phadke, S.R. and Girisha, K.M. and Shukla, A. and Datar, C. and Verma, I.C. and Puri, R.D. and Bhavsar, R. and Mistry, M. and Sankar, V.H. and Gowrishankar, K. and Agrawal, Divya and Nair, M. and Danda, S. and Soni, J.P. and Dalal, Ashwin (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65 (11). pp. 971-984. ISSN 1434-5161 Sheth, J. and Bhavsar, R. and Mistri, M. and Pancholi, D. and Bavdekar, A. and Dalal, Ashwin and Ranganath, P. and Girisha, K.M. and Shukla, A. and Phadke, S.R. and Puri, R. and Panigrahi, I. and Kaur, A. and Muranjan, M. and Goyal, M. and Radha Ramadevi, A. and Shah, R. and Nampoothiri, S. and Danda, S. and Datar, C. and Kapoor, S. and Bhatwadekar, S. and Sheth, F. (2019) Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Medical Genetics, 20 (1). p. 31. ISSN 1471-2350 Mistri, M.A. and Dalal, Ashwin and Nath, P. and Nampoothiri, S. and Mehta, S. and Singh, A. and Sheth, F. and Sheth, J. (2018) Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening. Molecular Genetics and Metabolism, 123 (2). s96. ISSN 1096-7192
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