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Journal Abstract Search

204 related items for PubMed ID: 9556300

  • 1. Spondylometaphyseal dysplasia-Sedaghatian type.
    Elçioglu N, Hall CM.
    Am J Med Genet; 1998 Apr 13; 76(5):410-4. PubMed ID: 9556300
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  • 5. Spondylometaphyseal dysplasia: a variant form.
    Felman AH, Frias JL, Rennert OM.
    Radiology; 1974 Nov 13; 113(2):409-15. PubMed ID: 4419008
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  • 8. Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.
    Fryns JP, Lorenzetti ME, Maroteaux P, Van den Berghe H.
    Am J Med Genet; 1996 Jan 11; 61(2):164-7. PubMed ID: 8669445
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  • 9. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
    Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE.
    J Med Genet; 2014 Jul 11; 51(7):470-4. PubMed ID: 24706940
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  • 10. Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature.
    Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L.
    Am J Med Genet A; 2012 Jun 11; 158A(6):1400-5. PubMed ID: 22529034
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  • 14. The value of perinatal post-mortem radiography. Experience of 514 cases.
    Seppänen U.
    Ann Clin Res; 1985 Jun 11; 17 Suppl 44():1-59. PubMed ID: 3159330
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  • 18. Prevalence of lethal osteochondrodysplasias in Denmark.
    Andersen PE.
    Am J Med Genet; 1989 Apr 11; 32(4):484-9. PubMed ID: 2789000
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  • 20. Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome.
    Nevin NC, Thomas PS, Hutchinson J.
    Am J Med Genet; 1986 May 11; 24(1):33-9. PubMed ID: 3706411
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