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Journal Abstract Search

161 related items for PubMed ID: 15214014

  • 1. Spondyloenchondrodysplasia: clinical variability in three cases.
    Tüysüz B, Arapoglu M, Ungür S.
    Am J Med Genet A; 2004 Jul 15; 128A(2):185-9. PubMed ID: 15214014
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  • 2. Spondyloenchondrodysplasia: a rare cause of short stature.
    Yeşiltepe-Mutlu G, Ozsu E, Cizmecioğlu FM, Alanay Y, Hatun S.
    Turk J Pediatr; 2011 Jul 15; 53(4):464-6. PubMed ID: 21980854
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  • 3. Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
    Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O.
    Rheumatol Int; 2020 Nov 15; 40(11):1903-1910. PubMed ID: 32691099
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  • 4. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
    Tüysüz B, Ungür S.
    Am J Med Genet A; 2003 Jun 15; 119A(3):375-80. PubMed ID: 12784309
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  • 5. Spondyloenchondrodysplasia.
    Menger H, Kruse K, Spranger J.
    J Med Genet; 1989 Feb 15; 26(2):93-9. PubMed ID: 2918547
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  • 8. Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.
    Schorr S, Legum C, Ochshorn M.
    Radiology; 1976 Jan 15; 118(1):133-9. PubMed ID: 1244645
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  • 9. Familial brachyolmia.
    Darcan S, Yalman O, Coker M, Demir N, Ozkinay F.
    J Pediatr Endocrinol Metab; 2000 Jan 15; 13(7):955-8. PubMed ID: 10968486
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  • 10. Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
    Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Bürgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ.
    J Clin Immunol; 2016 Apr 15; 36(3):220-34. PubMed ID: 26951490
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  • 11. Brachyolmia and spinal stenosis.
    Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.
    Am J Med Genet A; 2003 Jul 15; 120A(2):272-5. PubMed ID: 12833413
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  • 12. Spondyloepiphyseal dysplasia tarda: four cases from two families.
    Bal S, Kocyigit H, Turan Y, Gurgan A, Bayram KB, Güvenc A, Kocaaga Z, Dirim B.
    Rheumatol Int; 2009 Apr 15; 29(6):699-702. PubMed ID: 18932001
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  • 14. Autosomal dominant inheritance of spondyloenchondrodysplasia.
    Bhargava R, Leonard NJ, Chan AK, Spranger J.
    Am J Med Genet A; 2005 Jun 15; 135(3):282-8. PubMed ID: 15887273
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  • 15. Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia.
    Eberle AJ.
    Am J Med Genet; 1993 Sep 15; 47(4):464-7. PubMed ID: 8256805
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  • 19. Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia).
    Bayrak IK, Nural MS, Diren HB.
    Diagn Interv Radiol; 2005 Sep 15; 11(3):163-5. PubMed ID: 16206059
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  • 20. Heterogeneity of Dyggve-Melchior-Clausen dwarfism.
    Spranger J, Bierbaum B, Herrmann J.
    Hum Genet; 1976 Aug 30; 33(3):279-87. PubMed ID: 964990
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