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Page 1
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Among authors: girisha km. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913
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
Handless, footless fetus.
Phadke SR, Girisha KM, Dalal A. Phadke SR, et al. Among authors: girisha km. Clin Dysmorphol. 2006 Oct;15(4):233-234. doi: 10.1097/01.mcd.0000220612.63025.4b. Clin Dysmorphol. 2006. PMID: 16957480
Issues in counseling for Down syndrome.
Girisha KM, Sharda SV, Phadke SR. Girisha KM, et al. Indian Pediatr. 2007 Feb;44(2):131-3. Indian Pediatr. 2007. PMID: 17351304 Free article.
Torg-Winchester syndrome: lack of efficacy of pamidronate therapy.
Phadke SR, Ramirez M, DiFeo A, Martignetti JA, Girisha KM. Phadke SR, et al. Among authors: girisha km. Clin Dysmorphol. 2007 Apr;16(2):95-100. doi: 10.1097/MCD.0b013e3280147187. Clin Dysmorphol. 2007. PMID: 17351352 Clinical Trial.
288 results