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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2006 1
2007 1
2009 1
2011 1
2012 1
2013 2
2014 2
2015 8
2016 5
2017 3
2018 2
2019 2
2020 4
2021 3
2022 1
2024 0

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32 results

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Page 1
Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.
Pradeep I, Gowrishankar K, Shanmugasundaram L. Pradeep I, et al. Among authors: gowrishankar k. Pediatr Dev Pathol. 2022 May-Jun;25(3):327-329. doi: 10.1177/10935266211065316. Epub 2021 Dec 27. Pediatr Dev Pathol. 2022. PMID: 34961372
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.
Guo L, Iida A, Bhavani GS, Gowrishankar K, Wang Z, Xue JY, Wang J, Miyake N, Matsumoto N, Hasegawa T, Iizuka Y, Matsuda M, Nakashima T, Takechi M, Iseki S, Yambe S, Nishimura G, Koseki H, Shukunami C, Girisha KM, Ikegawa S. Guo L, et al. Among authors: gowrishankar k. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8. Nat Commun. 2021. PMID: 33824347 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
32 results