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Article

Nampoothiri, S. and Yesodharan, D. and Bhattacherjee, Amrita and Ahamed, H. and Puri, R.D. and Gupta, N. and Kabra, M. and Ranganath, Prajnya and Bhat, M. and Phadke, S.R. and Radha Rama Devi, A. and Jagadeesh, S. and Danda, S. and Sylaja, P.N. and Mandal, K. and Bijarnia‐Mahay, S. and Makkar, R. and Verma, I.C. and Dalal, Ashwin and Ramaswami, U. (2020) Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Reports, 56 (1). pp. 82-94. ISSN 2192-8312

Dhanya Lakshmi, N. and Ranganath, P. and Aggarwal , Shagun and Dalal, Ashwin and Phadke, S.R. and Mandal, K. (2019) Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Indian Pediatrics, 56 (12). pp. 1017-1019. 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

Srivastava, Priyanka and Tuteja, M. and Dalal, Ashwin and Mandal, K. and Phadke, S.R. (2016) Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux. Journal of Genetics, 95 (4). pp. 905-909. ISSN 0022-1333

Ranganath, P. and Matta, D. and Bhavani, G.S. and Wangnekar, S. and Jain, J.M.N. and Verma, I.C. and Kabra, M. and Puri, R.D. and Danda, S. and Gupta, N. and Girisha, K.M. and Sankar, V.H. and Patil, S.J. and Radha Rama Devi, A. and Bhat, M. and Gowrishankar, K. and Mandal, K. and Aggarwal, Shagun and Tamhankar, P.M. and Tilak, P. and Phadke, S.R. and Dalal, Ashwin (2016) Spectrum of SMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. American Journal of Medical Genetics Part A, 170 (10). pp. 2719-2730. ISSN 1552-4825

Dalal, Ashwin and Ranganath, P. and Phadke, S.R. and Kabra, M. and Danda, S. and Puri, R.D. and Sankar, V.H. and Gupta, N. and Patil, S.J. and Mandal, K. and Tamhankar, P.M. and Aggarwal, Shagun and Agarwal, Meenal (2015) Prenatal diagnosis in India is not limited to sex selection. Genetics in Medicine, 17 (1). p. 88. ISSN 1098-3600

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