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226 results

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Page 1
"Baby rattle" pelvis dysplasia.
Cormier-Daire V, Savarirayan R, Lachman RS, Neidich JA, Grace K, Rimoin DL, Wilcox WR. Cormier-Daire V, et al. Among authors: savarirayan r. Am J Med Genet. 2001 Apr 15;100(1):37-42. Am J Med Genet. 2001. PMID: 11337746
New mesomelic dysplasia with absent fibulae and triangular tibiae.
Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. Savarirayan R, et al. Am J Med Genet. 2000 Sep 4;94(1):59-63. doi: 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982484
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. Gedeon AK, et al. Among authors: savarirayan r. Am J Hum Genet. 2001 Jun;68(6):1386-97. doi: 10.1086/320592. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349230 Free PMC article.
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Campos-Xavier B, et al. Among authors: savarirayan r. Hum Genet. 2001 Dec;109(6):653-8. doi: 10.1007/s00439-001-0644-8. Epub 2001 Nov 9. Hum Genet. 2001. PMID: 11810278
Prenatal cortical hyperostosis (Caffey disease).
Savarirayan R, Cormier-Daire V, Amor DJ, Wilcox WR, Lachman RS, Rimoin DL. Savarirayan R, et al. Pediatr Radiol. 2002 Sep;32(9):694. doi: 10.1007/s00247-002-0763-y. Pediatr Radiol. 2002. PMID: 12422848 No abstract available.
The skeletal dysplasias.
Savarirayan R, Rimoin DL. Savarirayan R, et al. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):547-60. doi: 10.1053/beem.2002.0210. Best Pract Res Clin Endocrinol Metab. 2002. PMID: 12464233 Review.
226 results