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Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
Am J Med Genet A. 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222.
Am J Med Genet A. 2004.
PMID: 15316962
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafé L.
Ha-Vinh R, et al.
Am J Med Genet A. 2004 Dec 1;131(2):115-20. doi: 10.1002/ajmg.a.30231.
Am J Med Genet A. 2004.
PMID: 15523624
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MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A.
Bonafé L, et al. Among authors: ha vinh r.
Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19.
Am J Med Genet A. 2014.
PMID: 24648384
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The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H, Dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckmann JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T.
Fukada T, et al. Among authors: ha vinh r.
PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5.
PLoS One. 2008.
PMID: 18985159
Free PMC article.
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Brain development of the preterm neonate after neonatal hydrocortisone treatment for chronic lung disease.
Benders MJ, Groenendaal F, van Bel F, Ha Vinh R, Dubois J, Lazeyras F, Warfield SK, Hüppi PS, de Vries LS.
Benders MJ, et al. Among authors: ha vinh r.
Pediatr Res. 2009 Nov;66(5):555-9. doi: 10.1203/PDR.0b013e3181b3aec5.
Pediatr Res. 2009.
PMID: 19851225
Free PMC article.
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