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Number of items: 10.

Article

Divya, Pasumarthi and Gupta, N. and Sheth, J. and Jain, J.M.N. and Rungsung, I. and Kabra, M. and Ranganath, Prajnya and Aggarwal, Shagun and Phadke, S.R. and Girisha, K.M. and Shukla, A. and Datar, C. and Verma, I.C. and Puri, R.D. and Bhavsar, R. and Mistry, M. and Sankar, V.H. and Gowrishankar, K. and Agrawal, Divya and Nair, M. and Danda, S. and Soni, J.P. and Dalal, Ashwin (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65 (11). pp. 971-984. ISSN 1434-5161

Dhanya Lakshmi, N. and Matta, D. and Gupta, N. and Kabra, M. and Ranganath, P. and Aggarwal, Shagun and Phadke, S.R. and Datar, C. and Gowrishankar, K. and Kamate, M. and Jain, J.M.N. and Dalal, Ashwin (2019) Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. Journal of Human Genetics, 64 (4). pp. 323-331. ISSN 1434-5161

Aggarwal, Shagun and Tandon, A. and Das Bhowmik, A. and Jain, J.M.N. and Dalal, Ashwin (2018) A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series. Fetal and Pediatric Pathology, 37 (1). pp. 49-68. ISSN 1551-3815

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

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

Naushad, S.M. and Jain, J.M.N. and Krishnaprasad, C. and Naik, U. and Radha Rama Devi, A. (2013) Autistic children exhibit distinct plasma amino acid profile. Indian Journal of Biochemistry and Biophysics, 50 (5). pp. 474-478. ISSN 0301-1208

Naushad, S.M. and Jain, J.M.N. and Krishnaprasad, C. and Singh, R.P. and Naik, U. and Radha Rama Devi, A. (2009) Aberrations in folate metabolic pathway and altered susceptibility to autism. Psychiatric Genetics, 19 (4). pp. 171-176. ISSN 0955-8829

Govindaiah, V. and Naushad, S.M. and Jain, J.M.N. and Krishnaprasad , C. and Radha Rama Devi , A. (2009) Genetic and environmental influences on total plasma homocysteine and coronary artery disease (CAD) risk among South Indians. Clinica Chimica Acta, 405 (1-2). pp. 127-131. ISSN 0009-8981

Naushad, S.M. and Jain, J.M.N. and Krishnaprasad, C. and Radha Rama Devi, A. (2008) Relationship between methionine synthase, methionine synthase reductase genetic polymorphisms and deep vein thrombosis among South Indians. Clinical Chemistry and Laboratory Medicine, 46 (1). pp. 73-79. ISSN 1434-6621

Naushad, S.M. and Jain, J.M.N. and Angalena, M.R.K. and Prasad, C.K. and Radha Rama Devi, A. (2007) Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians. Blood Coagulation & Fibrinolysis, 18 (2). pp. 113-117. ISSN 0957-5235

This list was generated on Sun Dec 22 18:26:05 2024 IST.