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Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A. Nashi S, et al. Among authors: faruq m. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
Anastrozole-mediated modulation of mitochondrial activity by inhibition of mitochondrial permeability transition pore opening: an initial perspective.
Kumar S, Choudhary N, Faruq M, Kumar A, Saran RK, Indercanti PK, Singh V, Sait H, Jaitley S, Valis M, Kuca K, Polipalli SK, Kumar M, Singh T, Suravajhala P, Sharma R, Kapoor S. Kumar S, et al. Among authors: faruq m. J Biomol Struct Dyn. 2023;41(23):14063-14079. doi: 10.1080/07391102.2023.2176927. Epub 2023 Feb 23. J Biomol Struct Dyn. 2023. PMID: 36815262
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Díaz-González F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montané L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldán B, Nishimura G, Offiah AC, Faruq M, Heath KE. Díaz-González F, et al. Among authors: faruq m. J Med Genet. 2022 Jan;59(1):28-38. doi: 10.1136/jmedgenet-2020-107177. Epub 2020 Oct 26. J Med Genet. 2022. PMID: 33106379
Consensus Guidelines on Management of Steroid-Resistant Nephrotic Syndrome.
Vasudevan A, Thergaonkar R, Mantan M, Sharma J, Khandelwal P, Hari P, Sinha A, Bagga A; Expert Group Of The Indian Society Of Pediatric Nephrology. Vasudevan A, et al. Indian Pediatr. 2021 Jul 15;58(7):650-666. Epub 2021 Jan 4. Indian Pediatr. 2021. PMID: 33408286 Free article.
Genomics of rare genetic diseases-experiences from India.
GUaRDIAN Consortium; Sivasubbu S, Scaria V. GUaRDIAN Consortium, et al. Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5. Hum Genomics. 2019. PMID: 31554517 Free PMC article. Review.
151 results