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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 1
1995 1
1997 3
1999 1
2000 4
2001 5
2002 3
2003 3
2004 5
2005 12
2006 16
2007 12
2008 5
2009 7
2010 5
2011 9
2012 17
2013 15
2014 13
2015 11
2016 8
2017 9
2018 12
2019 20
2020 11
2021 15
2022 15
2023 12
2024 7
2025 1

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223 results

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Page 1
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: kimonis ve. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.
Weiss L, Carrer M, Shmara A, Cheng C, Yin H, Ta L, Boock V, Fazeli Y, Chang M, Paguio M, Lee J, Yu H, Martin A, Raben N, Weiss J, Grossman T, Jafar-Nejad P, Kimonis V. Weiss L, et al. Among authors: kimonis v. bioRxiv [Preprint]. 2024 Mar 2:2024.02.22.580414. doi: 10.1101/2024.02.22.580414. bioRxiv. 2024. PMID: 38464319 Free PMC article. Preprint.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. Wallace EL, et al. Among authors: kimonis v. J Med Genet. 2024 May 21;61(6):520-530. doi: 10.1136/jmg-2023-109445. J Med Genet. 2024. PMID: 37940383 Free PMC article. Clinical Trial.
A novel syndrome associated with prenatal fentanyl exposure.
Wadman E, Fernandes E, Muss C, Powell-Hamilton N, Wojcik MH, Madden JA, Carreon CK, Clark RD, Stenftenagel A, Chikalard K, Kimonis V, Brucker W, Alves C, Gripp KW. Wadman E, et al. Among authors: kimonis v. Genet Med Open. 2023 Sep 28;1(1):100834. doi: 10.1016/j.gimo.2023.100834. eCollection 2023. Genet Med Open. 2023. PMID: 39669238 Free PMC article.
223 results