• 513 Citations
  • 14 h-Index
20122020

Research output per year

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Research Output

  • 513 Citations
  • 14 h-Index
  • 79 Article
  • 7 Letter
  • 4 Comment/debate
  • 1 Review article
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Letter
2020

Spastic Paraplegia Type 56 in a Young Child

Samaddar, S., Kaur, P., Rajagopal, K. V., Girisha, K. M., Shukla, A. & Sharma, S., 01-01-2020, (Accepted/In press) In : Indian Journal of Pediatrics.

Research output: Contribution to journalLetter

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

1 Citation (Scopus)
2016

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

3 Citations (Scopus)
2015

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

13 Citations (Scopus)

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