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Number of items: 4.

Article

Aggarwal, Shagun and Jain, S.J.M.N. and Das Bhowmik, A. and Tandon, A. and Dalal, Ashwin (2015) Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype. American Journal of Medical Genetics Part A, 167 (11). pp. 2858-2860. ISSN 1552-4825

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

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

Aggarwal, Shagun and Coutinho, M.F. and Dalal, Ashwin and Jain, S.J.M.N. and Prata, M.J. and Alves, S. (2014) Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation. Gene, 542 (2). pp. 266-268. ISSN 1879-0038

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