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Page 1
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Puri RD, Setia N, N V, Jagadeesh S, Nampoothiri S, Gupta N, Muranjan M, Bhat M, Girisha KM, Kabra M, Verma J, Thomas DC, Biji I, Raja J, Makkar R, Verma IC, Kishnani PS. Puri RD, et al. Among authors: girisha km. Neuromuscul Disord. 2021 May;31(5):431-441. doi: 10.1016/j.nmd.2021.02.013. Epub 2021 Feb 16. Neuromuscul Disord. 2021. PMID: 33741225
Congenital and inherited ophthalmologic abnormalities.
Arora P, Tullu MS, Muranjan MN, Kerkar SP, Girisha KM, Bharucha BA. Arora P, et al. Among authors: girisha km. Indian J Pediatr. 2003 Jul;70(7):549-52. doi: 10.1007/BF02723156. Indian J Pediatr. 2003. PMID: 12940376
Down syndrome: clinical profile from India.
Kava MP, Tullu MS, Muranjan MN, Girisha KM. Kava MP, et al. Among authors: girisha km. Arch Med Res. 2004 Jan-Feb;35(1):31-5. doi: 10.1016/j.arcmed.2003.06.005. Arch Med Res. 2004. PMID: 15036797
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Dimopoulou A, et al. Among authors: girisha km. Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24. Mol Genet Metab. 2013. PMID: 24035636
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.
Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A. Nampoothiri S, et al. Among authors: girisha km. Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14. Am J Med Genet A. 2014. PMID: 25044831
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. Among authors: girisha km. 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
Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' community.
Rajasimha HK, Shirol PB, Ramamoorthy P, Hegde M, Barde S, Chandru V, Ravinandan ME, Ramchandran R, Haldar K, Lin JC, Babar IA, Girisha KM, Srinivasan S, Navaneetham D, Battu R, Devarakonda R, Kini U, Vijayachandra K, Verma IC. Rajasimha HK, et al. Among authors: girisha km. Genet Res (Camb). 2014 Aug 13;96:e009. doi: 10.1017/S0016672314000111. Genet Res (Camb). 2014. PMID: 25579084 Free PMC article. Review.
Recurrent and novel GLB1 mutations in India.
Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, Danda S, Gupta N, Kabra M, Hebbar SA, Bhat RY, Matta D, Ekbote AV, Puri RD, Phadke SR, Gowrishankar K, Aggarwal S, Ranganath P, Sharda S, Kamate M, Datar CA, Bhat K, Kamath N, Shah H, Krishna S, Gopinath PM, Verma IC, Nagarajaram HA, Satyamoorthy K, Girisha KM. Bidchol AM, et al. Among authors: girisha km. Gene. 2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30. Gene. 2015. PMID: 25936995
276 results