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Novel and recurrent mutations in WISP3 and an atypical phenotype.
Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Bhavani GS, et al. Among authors: puri rd. Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. Am J Med Genet A. 2015. PMID: 25988854 No abstract available.
Genetic counseling: the impact in Indian milieu.
Phadke SR, Pandey A, Puri RD, Patil SJ. Phadke SR, et al. Among authors: puri rd. Indian J Pediatr. 2004 Dec;71(12):1079-82. doi: 10.1007/BF02829818. Indian J Pediatr. 2004. PMID: 15630315
Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.
Bashyam MD, Chaudhary AK, Reddy EC, Devi AR, Savithri GR, Ratheesh R, Bashyam L, Mahesh E, Sen D, Puri R, Verma IC, Nampoothiri S, Vaidyanathan S, Chandrashekar MD, Kantheti P. Bashyam MD, et al. Mol Genet Metab. 2010 May;100(1):96-9. doi: 10.1016/j.ymgme.2010.01.016. Epub 2010 Feb 2. Mol Genet Metab. 2010. PMID: 20188615
118 results