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263 results

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De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H. Li J, et al. Among authors: kannan v. Hum Mutat. 2019 Dec;40(12):2393-2413. doi: 10.1002/humu.23895. Epub 2019 Sep 10. Hum Mutat. 2019. PMID: 31429998 Free PMC article.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT. Fry AE, et al. Among authors: kannan v. Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358. Brain. 2018. PMID: 29365063 Free PMC article.
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
XiangWei W, Kannan V, Xu Y, Kosobucki GJ, Schulien AJ, Kusumoto H, Moufawad El Achkar C, Bhattacharya S, Lesca G, Nguyen S, Helbig KL, Cuisset JM, Fenger CD, Marjanovic D, Schuler E, Wu Y, Bao X, Zhang Y, Dirkx N, Schoonjans AS, Syrbe S, Myers SJ, Poduri A, Aizenman E, Traynelis SF, Lemke JR, Yuan H, Jiang Y. XiangWei W, et al. Among authors: kannan v. Brain. 2019 Oct 1;142(10):3009-3027. doi: 10.1093/brain/awz232. Brain. 2019. PMID: 31504254 Free PMC article.
Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis.
Gombolay G, Brenton JN, Yang JH, Stredny CM, Kammeyer R, Fisher KS, Sandweiss AJ, Erickson TA, Kannan V, Otten C, Steriade C, Vu N, Santoro JD, Robles-Lopez K, Goodrich R, Otallah S, Arellano J, Christiana A, Morris M, Gorman MP, Kornbluh AB, Kahn I, Sepeta L, Jiang Y, Muscal E, Murray KO, Moodley M, Hardy D. Gombolay G, et al. Among authors: kannan v. Pediatr Neurol. 2024 Oct;159:12-15. doi: 10.1016/j.pediatrneurol.2024.07.009. Epub 2024 Jul 17. Pediatr Neurol. 2024. PMID: 39094249
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Calame DG, et al. Among authors: kannan v. Genet Med. 2024 Sep 19:101273. doi: 10.1016/j.gim.2024.101273. Online ahead of print. Genet Med. 2024. PMID: 39306721
Performance of an AI-powered visualization software platform for precision surgery in breast cancer patients.
Weitz M, Pfeiffer JR, Patel S, Biancalana M, Pekis A, Kannan V, Kaklamanos E, Parker A, Bucksot JE, Romera JR, Alvin R, Zhang Y, Stefka AT, Lopez-Ramos D, Peterson JR, Antony AK, Zamora KW, Woodard S. Weitz M, et al. Among authors: kannan v. NPJ Breast Cancer. 2024 Nov 14;10(1):98. doi: 10.1038/s41523-024-00696-6. NPJ Breast Cancer. 2024. PMID: 39543194 Free PMC article.
263 results