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Article

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

Puri, R.D. and Kapoor, S. and Kishnani, P.S. and Dalal, Ashwin and Gupta, N. and Muranjan, M. and Phadke, S.R. and Sachdeva, A. and Verma, I.C. and Mistry, P.K. (2018) Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatrics, 55 (2). pp. 143-153. ISSN 0019-6061

Uttarilli, Anusha and Ranganath, P. and Matta, D. and Jain, J.M.N. and Krishnaprasad, C. and Sobhan Babu, A. and Girisha, K.M. and Verma, I.C. and Phadke, S.R. and Mandal, K. and Puri, R.D. and Aggarwal, Shagun and Danda, S. and Sankar, V.H. and Kapoor, S. and Bhat, M. and Gowrishankar, K. and Hasan, A.Q. and Nair, M. and Nampoothiri, S. and Dalal, Ashwin (2016) Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clinical Genetics, 90 (6). pp. 496-508. ISSN 0009-9163

Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Reddy, V. and Nagarajaram, H.A. and Dalal, Ashwin and Bashyam, L. and Sun, D. and Gupta, A. and Gupta, N. and Kabra, M. and Puri, R.D. and Radha Rama Devi, A. and Kapoor, S. and Danda, S. (2014) Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clinical Genetics, 86 (6). pp. 530-538. ISSN 1399-0004

Bidchol, A.M. and Dalal, Ashwin and Shah, H. and Suryanarayana, S. and Nampoothiri, S. and Kabra, M. and Gupta, N. and Danda, S. and Gowrishankar, K. and Phadke, S.R. and Kapoor, S. and Kamate, M. and Verma, I.C. and Puri, R.D. and Sankar, V.H. and Radha Rama Devi, A. and Patil, S.J. and Ranganath, P. and Jain, S.J.M.N. and Agarwal, Meenal and Singh, Ankur and Mishra, P. and Tamhankar, P.M. and Gopinath, P.M. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2014) GALNS Mutations in Indian Patients With Mucopolysaccharidosis IVA. American Journal of Medical Genetics Part A, 164A (11). pp. 2793-2801. ISSN 1552-4833

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