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PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.
Am J Med Genet A. 2024 Feb 15:e63566. doi: 10.1002/ajmg.a.63566. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38357848
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A.
Pande S, et al. Among authors: neethukrishna k.
Eur J Hum Genet. 2023 Dec 20. doi: 10.1038/s41431-023-01513-7. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 38114583
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Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.
Kaur P, Neethukrishna K, Kumble A, Girisha KM, Shukla A.
Kaur P, et al. Among authors: neethukrishna k.
Am J Med Genet A. 2019 May;179(5):857-861. doi: 10.1002/ajmg.a.61103. Epub 2019 Feb 28.
Am J Med Genet A. 2019.
PMID: 30816001
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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ.
Chang HR, et al. Among authors: neethukrishna k.
Am J Hum Genet. 2019 Mar 7;104(3):439-453. doi: 10.1016/j.ajhg.2019.01.009. Epub 2019 Feb 14.
Am J Hum Genet. 2019.
PMID: 30773278
Free PMC article.
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.
Girisha KM, et al. Among authors: neethukrishna k.
Hum Mutat. 2019 Mar;40(3):299-309. doi: 10.1002/humu.23693. Epub 2018 Dec 21.
Hum Mutat. 2019.
PMID: 30488656
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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.
Hammarsjö A, et al. Among authors: neethukrishna k.
Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.
Sci Rep. 2017.
PMID: 29138412
Free PMC article.
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Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature.
Shukla A, Upadhyai P, Shah J, Neethukrishna K, Bielas S, Girisha KM.
Shukla A, et al. Among authors: neethukrishna k.
Eur J Med Genet. 2017 Feb;60(2):118-123. doi: 10.1016/j.ejmg.2016.11.006. Epub 2016 Nov 29.
Eur J Med Genet. 2017.
PMID: 27913285
Free PMC article.
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Proteomic analysis of a compatible interaction between sugarcane and Sporisorium scitamineum.
Barnabas L, Ashwin NM, Kaverinathan K, Trentin AR, Pivato M, Sundar AR, Malathi P, Viswanathan R, Rosana OB, Neethukrishna K, Carletti P, Arrigoni G, Masi A, Agrawal GK, Rakwal R.
Barnabas L, et al. Among authors: neethukrishna k.
Proteomics. 2016 Apr;16(7):1111-22. doi: 10.1002/pmic.201500245.
Proteomics. 2016.
PMID: 26857420
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