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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.
Pranav Chand R, Vinit W, Vaidya V, Iyer AS, Shelke M, Aggarwal S, Magar S, Danda S, Moirangthem A, Phadke SR, Goyal M, Ranganath P, Mistri M, Shah P, Shah N, Kotecha UH. Pranav Chand R, et al. Among authors: mistri m. Eur J Med Genet. 2023 May;66(5):104730. doi: 10.1016/j.ejmg.2023.104730. Epub 2023 Feb 15. Eur J Med Genet. 2023. PMID: 36801247 Review.
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F. Sheth J, et al. Among authors: mistri m. BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1. BMC Med Genet. 2019. PMID: 30764785 Free PMC article.
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J. Ankleshwaria C, et al. Among authors: mistri m. J Hum Genet. 2014 Apr;59(4):223-8. doi: 10.1038/jhg.2014.5. Epub 2014 Feb 13. J Hum Genet. 2014. PMID: 24522292
66 results