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Page 1
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: iyer a. Hum Genomics. 2024 May 10;18(1):46. doi: 10.1186/s40246-024-00613-9. Hum Genomics. 2024. PMID: 38730490 Free PMC article.
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.
Pranav Chand R, Vinit W, Vaidya V, Iyer AS, Shelke M, Aggarwal S, Magar S, Danda S, Moirangthem A, Phadke SR, Goyal M, Ranganath P, Mistri M, Shah P, Shah N, Kotecha UH. Pranav Chand R, et al. Among authors: iyer as. Eur J Med Genet. 2023 May;66(5):104730. doi: 10.1016/j.ejmg.2023.104730. Epub 2023 Feb 15. Eur J Med Genet. 2023. PMID: 36801247 Review.
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
Sheth F, Shah J, Jain D, Shah S, Patel H, Patel K, Solanki DI, Iyer AS, Menghani B, Mhatre P, Mehta S, Bajaj S, Patel V, Pandya M, Dhami D, Patel D, Sheth J, Sheth H. Sheth F, et al. BMC Neurol. 2023 Aug 5;23(1):292. doi: 10.1186/s12883-023-03341-0. BMC Neurol. 2023. PMID: 37543562 Free PMC article.
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: iyer a. 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.
Fracture Dynamics in Silicon Anode Solid-State Batteries.
Nelson DL, Sandoval SE, Pyo J, Bistri D, Thomas TA, Cavallaro KA, Lewis JA, Iyer AS, Shevchenko P, Di Leo CV, McDowell MT. Nelson DL, et al. Among authors: iyer as. ACS Energy Lett. 2024 Nov 26;9(12):6085-6095. doi: 10.1021/acsenergylett.4c02800. eCollection 2024 Dec 13. ACS Energy Lett. 2024. PMID: 39698335 Free PMC article.
1,108 results