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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: ranganath p. 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.
COL1A1 mutation in an Indian child with Caffey disease.
Ranganath P, Laine CM, Gupta D, Mäkitie O, Phadke SR. Ranganath P, et al. Indian J Pediatr. 2011 Jul;78(7):877-9. doi: 10.1007/s12098-010-0339-z. Epub 2011 Jan 20. Indian J Pediatr. 2011. PMID: 21249479
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: ranganath p. Am J Med Genet A. 2014 Nov;164A(11):2793-801. doi: 10.1002/ajmg.a.36735. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25252036
Prenatal diagnosis in India is not limited to sex selection.
Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Dalal AB, et al. Among authors: ranganath p. Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. Genet Med. 2015. PMID: 25356971 Free article. No abstract available.
86 results