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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha CR, Sheth F, Joshi CG, Joshi M, Sheth J. Sheth H, et al. Among authors: panigrahi i. Hum Genomics. 2024 May 10;18(1):46. doi: 10.1186/s40246-024-00613-9. Hum Genomics. 2024. PMID: 38730490 Free PMC article.
Non-immune hydrops fetalis due to infantile sialidosis.
Panigrahi I, Grover S, Hiranandani M, Sheth J. Panigrahi I, et al. Pediatr Neonatol. 2024 Mar;65(2):212-213. doi: 10.1016/j.pedneo.2022.05.023. Epub 2024 Jan 26. Pediatr Neonatol. 2024. PMID: 38296756 Free article. No abstract available.
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J, Nair A, Sheth F, Ajagekar M, Dhondekar T, Panigrahi I, Bavdekar A, Nampoothiri S, Datar C, Gandhi A, Muranjan M, Kaur A, Desai M, Mistri M, Patel C, Naik P, Shah M, Godbole K, Kapoor S, Gupta N, Bijarnia-Mahay S, Kadam S, Solanki D, Desai S, Iyer A, Patel K, Patel H, Shah RC, Mehta S, Shah R, Bhavsar R, Shah J, Pandya M, Patel B, Shah S, Shah H, Shah S, Bajaj S, Shah S, Thaker N, Kalane U, Kamate M, Kn VR, Tayade N, Jagadeesan S, Jain D, Chandarana M, Singh J, Mehta S, Suresh B, Sheth H. Sheth J, et al. Among authors: panigrahi i. Orphanet J Rare Dis. 2024 Aug 13;19(1):295. doi: 10.1186/s13023-024-03300-z. Orphanet J Rare Dis. 2024. PMID: 39138584 Free PMC article.
161 results