Department of Medical Genetics, Kasturba Medical College, Manipal

  • India

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    Research Output

    Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

    Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-04-2020, In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

    Girisha, K. M., Bhavani, G. S., Shah, H., Moirangthem, A., Shukla, A., Kim, O. H., Nishimura, G. & Mortier, G. R., 01-02-2020, In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

    Narayanan, D. L., Purushothama, G., Bhavani, G. S. L. & Shukla, A., 01-01-2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle