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Orthopaedic manifestations of Bardet-Biedl syndrome.
Ramirez N, Marrero L, Carlo S, Cornier AS. Ramirez N, et al. Among authors: cornier as. J Pediatr Orthop. 2004 Jan-Feb;24(1):92-6. doi: 10.1097/00004694-200401000-00018. J Pediatr Orthop. 2004. PMID: 14676542
Unilateral congenital absence of the calf muscle.
Flynn JM, Ramirez N, Cornier AS, Colon-Negron E. Flynn JM, et al. Among authors: cornier as. J Pediatr Orthop B. 2007 Jan;16(1):70-2. doi: 10.1097/01.bpb.0000236233.64893.5c. J Pediatr Orthop B. 2007. PMID: 17159539
Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia.
Ramirez N, Flynn JM, Casalduc F, Rodriguez S, Cornier AS, Carlo S. Ramirez N, et al. Among authors: cornier as. J Child Orthop. 2012 Jul;6(3):199-203. doi: 10.1007/s11832-012-0407-1. Epub 2012 May 25. J Child Orthop. 2012. PMID: 23814620 Free PMC article.
Controversies surrounding Jarcho-Levin syndrome.
Cornier AS, Ramirez N, Carlo S, Reiss A. Cornier AS, et al. Curr Opin Pediatr. 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. Curr Opin Pediatr. 2003. PMID: 14631208 Review.
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O. Cornier AS, et al. Am J Hum Genet. 2008 Jun;82(6):1334-41. doi: 10.1016/j.ajhg.2008.04.014. Epub 2008 May 15. Am J Hum Genet. 2008. PMID: 18485326 Free PMC article.
20 results