• 408 Citations
  • 13 h-Index
20062019
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Research Output 2006 2019

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Letter
2019

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy

Hebbar, M., Chandra, T., Shukla, A., Kadavigere, R. & Girisha, K. M., 01-04-2017, In : Indian Journal of Pediatrics. 84, 4, p. 330-331 2 p.

Research output: Contribution to journalLetter

2016
3 Citations (Scopus)

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Hebbar, M., Prasada L, H., Bhowmik, A. D., Trujillano, D., Shukla, A., Chakraborti, S., Kandaswamy, K. K., Rolfs, A., Kamath, N., Dalal, A., Bielas, S. & Girisha, K. M., 01-09-2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2486-2489 4 p.

Research output: Contribution to journalLetter

2015
12 Citations (Scopus)

Novel and recurrent mutations in WISP3 and an atypical phenotype

Bhavani, G. S., Shah, H., Dalal, A. B., Shukla, A., Danda, S., Aggarwal, S., Phadke, S. R., Gupta, N., Kabra, M., Gowrishankar, K., Gupta, A., Bhat, M., Puri, R. D., Bijarnia-Mahay, S., Nampoothiri, S., Mohanasundaram, K. M., Rajeswari, S., Kulkarni, A. M., Kulkarni, M. L., Ranganath, P. & 3 others, Ramadevi, A. R., Hariharan, S. V. & Girisha, K. M., 01-10-2015, In : American Journal of Medical Genetics, Part A. 167, 10, p. 2481-2484 4 p.

Research output: Contribution to journalLetter

Research letters

Nayak, S. S., Shukla, A., Girisha, K. M., Doreswamy, S. M., Chakkarapani, A. A., Murthy, P., Devaraj Naik, K., Preetha, R., Ramachandran, A. M. & Nath, D., 2015, In : Indian Pediatrics. 52, 1, p. 73-76 4 p.

Research output: Contribution to journalLetter