Group by: Item Type | No Grouping Jump to: Article Number of items: 5. ArticleSheth, 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 Jain, S.J.M.N. and Krishnaprasad, C. and Sinha, A. and Verma, I.C. and Phadke, S.R. and Puri, R.D. and Danda, S. and Muranjan, M. and Jevalikar, G. and Nagarajaram, H.A. and Dalal, Ashwin (2015) Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian Journal of Medical Research, 142 (4). pp. 414-425. ISSN 0971-5916 Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Ranganath, P. and Dalal, Ashwin and Bashyam, L. and Gupta, N. and Kabra, M. and Muranjan, M. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Kadandale, J.S. (2014) Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. Journal of Cellular Biochemistry, 115 (3). pp. 566-74. ISSN 1097-4644 Muranjan, M. and Agarwal, Shruti and Lahiri, Keya and Bashyam, M.D. (2012) Novel Biochemical Abnormalities and Genotype in Farber Disease. Indian Pediatrics, 49 (4). pp. 320-322. ISSN 0019-6061
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