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

Year Number of Results
2006 1
2007 7
2008 15
2009 14
2010 16
2011 15
2012 23
2013 8
2014 15
2015 8
2016 10
2017 7
2018 11
2019 6
2020 3
2021 7
2022 3
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143 results
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Page 1
MECP2 mutations in males.
Villard L. Villard L. J Med Genet. 2007 Jul;44(7):417-23. doi: 10.1136/jmg.2007.049452. Epub 2007 Mar 9. J Med Genet. 2007. PMID: 17351020 Free PMC article. Review.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507
Clinical impacts of genomic copy number gains at Xq28.
Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K, Imai K, Okamoto N. Yamamoto T, et al. Hum Genome Var. 2014 Jul 24;1:14001. doi: 10.1038/hgv.2014.1. eCollection 2014. Hum Genome Var. 2014. PMID: 27081496 Free PMC article. Review.
143 results