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Page 1
Approach to the diagnosis of congenital myopathies.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. North KN, et al. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18. Neuromuscul Disord. 2014. PMID: 24456932 Free PMC article.
Motor assessment in patients with Duchenne muscular dystrophy.
Diniz GP, Lasmar LM, Giannetti JG. Diniz GP, et al. Among authors: giannetti jg. Arq Neuropsiquiatr. 2012 Jun;70(6):416-21. doi: 10.1590/s0004-282x2012000600007. Arq Neuropsiquiatr. 2012. PMID: 22699538 Free article.
Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.
Vianna GS, Freitas ML, Oliveira VT, Pietra RX, Gonçalves MD, Rocha PP, Monteiro RA, Ferreira LC, Xavier RR, Carvalho AM, Lima PR, Monteiro MA, Mateo EC, Giannetti JG, César GD, Lima JS, Medeiros PF, Jehee FS. Vianna GS, et al. Among authors: giannetti jg. Mol Syndromol. 2016 Nov;7(6):329-336. doi: 10.1159/000450631. Epub 2016 Nov 1. Mol Syndromol. 2016. PMID: 27920636 Free PMC article.