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Zebrafish models of collagen VI-related myopathies.
Telfer WR, Busta AS, Bonnemann CG, Feldman EL, Dowling JJ. Telfer WR, et al. Among authors: dowling jj. Hum Mol Genet. 2010 Jun 15;19(12):2433-44. doi: 10.1093/hmg/ddq126. Epub 2010 Mar 25. Hum Mol Genet. 2010. PMID: 20338942 Free PMC article.
Two dynamin-2 genes are required for normal zebrafish development.
Gibbs EM, Davidson AE, Trickey-Glassman A, Backus C, Hong Y, Sakowski SA, Dowling JJ, Feldman EL. Gibbs EM, et al. Among authors: dowling jj. PLoS One. 2013;8(2):e55888. doi: 10.1371/journal.pone.0055888. Epub 2013 Feb 13. PLoS One. 2013. PMID: 23418470 Free PMC article.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: dowling jj. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.
Signs and Symptoms in Congenital Myopathies.
Gonorazky HD, Dowling JJ, Volpatti JR, Vajsar J. Gonorazky HD, et al. Among authors: dowling jj. Semin Pediatr Neurol. 2019 Apr;29:3-11. doi: 10.1016/j.spen.2019.01.002. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060723 Review.
198 results