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Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH).
Mohan S, Koshy T, Vekatachalam P, Nampoothiri S, Yesodharan D, Gowrishankar K, Kumar J, Ravichandran L, Joseph S, Chandrasekaran A, Paul SF. Mohan S, et al. Among authors: gowrishankar k. Indian J Med Res. 2016 Aug;144(2):206-214. doi: 10.4103/0971-5916.195031. Indian J Med Res. 2016. PMID: 27934799 Free PMC article.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Girisha KM, Shukla A, Datar C, Verma IC, Puri RD, Bhavsar R, Mistry M, Sankar VH, Gowrishankar K, Agrawal D, Nair M, Danda S, Soni JP, Dalal A. Pasumarthi D, et al. Among authors: gowrishankar k. J Hum Genet. 2020 Nov;65(11):971-984. doi: 10.1038/s10038-020-0797-8. Epub 2020 Jul 10. J Hum Genet. 2020. PMID: 32651481
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A. Somashekar PH, et al. Among authors: gowrishankar k. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
Mutation Analysis of TBX1 in Children with Conotruncal Heart Anomalies.
Koshy T, Venkatesan V, Gowrishankar K, Perumal V, Mohan S, Paul SF. Koshy T, et al. Among authors: gowrishankar k. Indian J Pediatr. 2016 Aug;83(8):879. doi: 10.1007/s12098-015-1953-6. Epub 2015 Dec 4. Indian J Pediatr. 2016. PMID: 26634261 No abstract available.
Thiamine responsive megaloblastic anemia syndrome.
Ganesh R, Ezhilarasi S, Vasanthi T, Gowrishankar K, Rajajee S. Ganesh R, et al. Among authors: gowrishankar k. Indian J Pediatr. 2009 Mar;76(3):313-4. doi: 10.1007/s12098-009-0058-5. Epub 2009 Apr 6. Indian J Pediatr. 2009. PMID: 19347672
70 results