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Page 1
RNA Foci in Two bi-Allelic RFC1 Expansion Carriers.
Wada T, Doi H, Okubo M, Tada M, Ueda N, Suzuki H, Tominaga W, Koike H, Komiya H, Kubota S, Hashiguchi S, Nakamura H, Takahashi K, Kunii M, Tanaka K, Miyaji Y, Higashiyama Y, Koshimizu E, Miyatake S, Katsuno M, Fujii S, Takahashi H, Matsumoto N, Takeuchi H, Tanaka F. Wada T, et al. Among authors: koshimizu e. Ann Neurol. 2024 Mar;95(3):607-613. doi: 10.1002/ana.26848. Epub 2023 Dec 27. Ann Neurol. 2024. PMID: 38062616
Permanent Genetic Resources added to Molecular Ecology Resources Database 1 May 2009-31 July 2009.
Molecular Ecology Resources Primer Development Consortium; Almany GR, DE Arruda MP, Arthofer W, Atallah ZK, Beissinger SR, Berumen ML, Bogdanowicz SM, Brown SD, Bruford MW, Burdine C, Busch JW, Campbell NR, Carey D, Carstens BC, Chu KH, Cubeta MA, Cuda JP, Cui Z, Datnoff LE, Dávila JA, Davis ES, Davis RM, Diekmann OE, Eizirik E, Fargallo JA, Fernandes F, Fukuda H, Gale LR, Gallagher E, Gao Y, Girard P, Godhe A, Gonçalves EC, Gouveia L, Grajczyk AM, Grose MJ, Gu Z, Halldén C, Härnström K, Hemmingsen AH, Holmes G, Huang CH, Huang CC, Hudman SP, Jones GP, Kanetis L, Karunasagar I, Karunasagar I, Keyghobadi N, Klosterman SJ, Klug PE, Koch J, Koopman MM, Köppler K, Koshimizu E, Krumböck S, Kubisiak T, Landis JB, Lasta ML, Lee CY, Li Q, Li SH, Lin RC, Liu M, Liu N, Liu WC, Liu Y, Loiseau A, Luan W, Maruthachalam KK, McCormick HM, Mellick R, Monnahan PJ, Morielle-Versute E, Murray TE, Narum SR, Neufeld K, De Nova PJ, Ojiambo PS, Okamoto N, Othman AS, Overholt WA, Pardini R, Paterson IG, Patty OA, Paxton RJ, Planes S, Porter C, Pratchett MS, Püttker T, Rasic G, Rasool B, Rey O, Riegler M, Riehl C, Roberts JM, Roberts PD, Rochel E, Roe KJ, Rossetto M, Ruzzante DE, Sakamoto T, Sarava… See abstract for full author list ➔ Molecular Ecology Resources Primer Development Consortium, et al. Among authors: koshimizu e. Mol Ecol Resour. 2009 Nov;9(6):1460-6. doi: 10.1111/j.1755-0998.2009.02759.x. Epub 2009 Sep 29. Mol Ecol Resour. 2009. PMID: 21564933
Permanent genetic resources added to Molecular Ecology Resources Database 1 August 2012 - 30 September 2012.
Molecular Ecology Resources Primer Development Consortium; Ahanchédé A, Alfaya JE, Andersen LW, Azam D, Bautista MA, Besnard AL, Bigatti G, Bouétard A, Coutellec MA, Ewédjè EE, Fuseya R, García-Jiménez R, Haratian M, Hardy OJ, Holm LE, Hoy CW, Koshimizu E, Loeschcke V, López-Márquez V, Machado CA, Machordom A, Marchi C, Michel AP, Micheneau C, Mittapalli O, Nagai T, Okamoto N, Pan Y, Panitz F, Safaie N, Sakamoto T, Sharifnabi B, Tian EW, Yu H. Molecular Ecology Resources Primer Development Consortium, et al. Among authors: koshimizu e. Mol Ecol Resour. 2013 Jan;13(1):158-9. doi: 10.1111/1755-0998.12035. Epub 2012 Nov 26. Mol Ecol Resour. 2013. PMID: 23176377
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L. Lehalle D, et al. Among authors: koshimizu e. J Med Genet. 2020 Dec;57(12):808-819. doi: 10.1136/jmedgenet-2019-106508. Epub 2020 May 14. J Med Genet. 2020. PMID: 32409512
100 results