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PUBMED FOR HANDHELDS

Journal Abstract Search


199 related items for PubMed ID: 25304117

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  • 24. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
    Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD.
    Nat Genet; 2000 Apr; 24(4):438-41. PubMed ID: 10742114
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  • 26. Spondylothoracic dysplasia in two siblings. A short neck and trunk due to vertebral body abnormalities along with abnormal ribs should suggest this rare syndrome.
    Trindade CE, de Nóbrega FJ.
    Clin Pediatr (Phila); 1977 Dec; 16(12):1097-9. PubMed ID: 589884
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  • 28. Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects.
    Çetinkaya M, Özkan H, Köksal N, Yazıcı Z, Yalçınkaya U.
    Clin Dysmorphol; 2008 Apr; 17(2):151-154. PubMed ID: 18388793
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  • 29. Spondylocostal dysostosis: dominant type.
    Lorenz P, Rupprecht E.
    Am J Med Genet; 1990 Feb; 35(2):219-21. PubMed ID: 2309760
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  • 35. Hemifacial microsomia with vertebral anomalies: case report.
    Filippi G.
    Birth Defects Orig Artic Ser; 1971 Feb; 7(1):197-201. PubMed ID: 4950944
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  • 38. Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.
    Legare JM, Seaborg K, Laffin J, Giampietro PF.
    Am J Med Genet A; 2017 Oct; 173(10):2808-2813. PubMed ID: 28815954
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  • 39. Second trimester prenatal diagnosis of the Jarcho-Levin syndrome.
    Tolmie JL, Whittle MJ, McNay MB, Gibson AA, Connor JM.
    Prenat Diagn; 1987 Feb; 7(2):129-34. PubMed ID: 3554211
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  • 40. Spondylo-costal dysostosis in two siblings.
    La Grutta A, Corsello G, Benigno V, Bianco A, La Grutta S, Giuffrè L.
    Klin Padiatr; 1992 Feb; 204(1):48-55. PubMed ID: 1740902
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