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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: narayanan dl. Clin Genet. 2019 Mar;95(3):398-402. doi: 10.1111/cge.13468. Epub 2018 Nov 27. Clin Genet. 2019. PMID: 30394532
Sirenomelia: case reports and current concepts of pathogenesis.
Pillay M, Yesodharan D, Narayanan DL, Jojo A, Luiz N, Nampoothiri S. Pillay M, et al. Among authors: narayanan dl. Pediatr Dev Pathol. 2012 Sep-Oct;15(5):403-6. doi: 10.2350/12-05-1199-CC.1. Epub 2012 Jul 20. Pediatr Dev Pathol. 2012. PMID: 22816558
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. 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
Metatropic Dysplasia with a Novel Mutation in TRPV4.
Narayanan DL, Bhavani GS, Girisha KM, Phadke SR. Narayanan DL, et al. Indian Pediatr. 2016 Aug 8;53(8):735-7. doi: 10.1007/s13312-016-0921-1. Indian Pediatr. 2016. PMID: 27567651 Free article.
54 results