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Year Number of Results
2003 1
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2006 3
2007 1
2008 1
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2011 1
2012 2
2013 5
2014 1
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2019 4
2020 3
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2023 4
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36 results

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Page 1
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: maegawa ghb. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X, Zhang H, Maegawa GHB, Wang Y, Gao X, Wang D, Li J. Zhan X, et al. Among authors: maegawa ghb. JAMA Netw Open. 2023 Jun 1;6(6):e2319364. doi: 10.1001/jamanetworkopen.2023.19364. JAMA Netw Open. 2023. PMID: 37342037 Free PMC article.
USP8 inhibition regulates autophagy flux and controls Salmonella infection.
Santelices J, Ou M, Maegawa GHB, Hercik K, Edelmann MJ. Santelices J, et al. Among authors: maegawa ghb. Front Cell Infect Microbiol. 2023 Mar 21;13:1070271. doi: 10.3389/fcimb.2023.1070271. eCollection 2023. Front Cell Infect Microbiol. 2023. PMID: 37026055 Free PMC article.
36 results