Group by: Item Type | No Grouping Number of items: 7. Uttarilli, Anusha and Divya, Pasumarthi and Ranganath, P. and Dalal, Ashwin (2017) Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Gene, 599. pp. 19-27. ISSN 0378-1119 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 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 Gupta, A. and Uttarilli, Anusha and Dalal, Ashwin and Girisha, K.M. (2015) Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. BMJ Case Reports, 2015. ISSN 1757-790X Kantaputra, P.N. and Kayserili, H. and Guven, Y. and Kantaputra, W. and Balci, M.C. and Tanpaiboon, P. and Tananuvat, N. and Uttarilli, Anusha and Dalal, Ashwin (2014) Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novelARSBmutations. American Journal of Medical Genetics Part A, 164 (6). pp. 1443-1453. ISSN 1552-4825 Kantaputra, P.N. and Kayserili, H. and Guven, Y. and Kantaputra, W. and Balci, M.C. and Tanpaiboon, P. and Uttarilli, Anusha and Dalal, Ashwin (2014) Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. Journal of Inherited Metabolic Disease, 37 (2). pp. 263-8. ISSN 1573-2665 Aggarwal, Shagun and Uttarilli, Anusha and Dalal, Ashwin (2013) GAPO syndrome with deafness. Clinical Dysmorphology, 22 (4). pp. 161-163. ISSN 0962-8827
|