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Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
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
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.
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
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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Uttarilli A, Ranganath P, Jain SJ, Prasad CK, Sinha A, Verma IC, Phadke SR, Puri RD, Danda S, Muranjan MN, Jevalikar G, Nagarajaram HA, Dalal AB.
Uttarilli A, et al.
Indian J Med Res. 2015 Oct;142(4):414-25. doi: 10.4103/0971-5916.169201.
Indian J Med Res. 2015.
PMID: 26609033
Free PMC article.
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STR markers for detecting heterogeneity in Indian population.
Jain S, Panigrahi I, Sheth J, Agarwal S.
Jain S, et al.
Mol Biol Rep. 2012 Jan;39(1):461-5. doi: 10.1007/s11033-011-0759-5. Epub 2011 May 17.
Mol Biol Rep. 2012.
PMID: 21584702
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Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies.
Jain S, Panigrahi I, Gupta R, Phadke SR, Agarwal S.
Jain S, et al.
Genet Test Mol Biomarkers. 2012 Jun;16(6):624-7. doi: 10.1089/gtmb.2011.0243. Epub 2012 Feb 7.
Genet Test Mol Biomarkers. 2012.
PMID: 22313045
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Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis.
Jain S, Agarwal S, Panigrahi I, Tamhankar P, Phadke S.
Jain S, et al.
Genet Test Mol Biomarkers. 2010 Aug;14(4):489-91. doi: 10.1089/gtmb.2009.0191.
Genet Test Mol Biomarkers. 2010.
PMID: 20722466
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Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population.
Jain S, Agarwal S, Tamhankar P, Verma P, Choudhuri G.
Jain S, et al.
Indian J Gastroenterol. 2011 Jul;30(4):161-5. doi: 10.1007/s12664-011-0109-5. Epub 2011 Aug 6.
Indian J Gastroenterol. 2011.
PMID: 21822737
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Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype.
Aggarwal S, Jain SJ, Bhowmik AD, Tandon A, Dalal A.
Aggarwal S, et al.
Am J Med Genet A. 2015 Nov;167A(11):2858-60. doi: 10.1002/ajmg.a.37251. Epub 2015 Jul 14.
Am J Med Genet A. 2015.
PMID: 26172087
No abstract available.
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