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Journal Abstract Search

428 related items for PubMed ID: 8434618

  • 1. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
    Borochowitz Z, Langer LO, Gruber HE, Lachman R, Katznelson MB, Rimoin DL.
    Am J Med Genet; 1993 Feb 01; 45(3):320-6. PubMed ID: 8434618
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  • 5. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
    Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM.
    Am J Med Genet; 1994 Jul 01; 51(3):213-5. PubMed ID: 8074146
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  • 8. Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features.
    Langer LO, Wolfson BJ, Scott CI, Reid CS, Schidlow DV, Millar EA, Borns PF, Lubicky JP, Carpenter BL.
    Am J Med Genet; 1993 Feb 15; 45(4):488-500. PubMed ID: 8465857
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  • 9. A new short rib syndrome: report of two cases.
    Beemer FA, Langer LO, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC.
    Am J Med Genet; 1983 Jan 15; 14(1):115-23. PubMed ID: 6829599
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  • 12. [Congenital spondylo-epiphyseal dysplasia: follow-up of a case over 9 years (author's transl)].
    Luthardt T, Reinwein H, Schönenberg H, Spranger J, Wiedemann HR.
    Klin Padiatr; 1975 Nov 15; 187(6):538-45. PubMed ID: 1240553
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  • 13. A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.
    Karaer K, Rosti RO, Torun D, Sanal HT, Bahçe M, Güran S.
    Turk J Pediatr; 2011 Nov 15; 53(3):346-51. PubMed ID: 21980822
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  • 14. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
    Smithson SF, Grier D, Hall CM.
    Clin Dysmorphol; 2009 Jan 15; 18(1):31-35. PubMed ID: 19050402
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  • 15. A new acro-cranio-facial dysostosis syndrome in sisters.
    Kaplan P, Plauchu H, Fitch N, Jéquier S.
    Am J Med Genet; 1988 Jan 15; 29(1):95-106. PubMed ID: 3344780
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  • 16. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
    Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E.
    Am J Med Genet; 1992 Jan 01; 42(1):112-6. PubMed ID: 1308349
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  • 18. A probably distinct autosomal recessive thoraco-limb dysplasia.
    Rivera H, Perez-Salas JM, Nazara Z, Ramirez ML.
    J Med Genet; 1988 Sep 01; 25(9):619-22. PubMed ID: 3184141
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  • 19. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.
    Akalın A, Özşin C, Koç N, Demir GÜ, Alanay Y, Utine E, Boduroğlu K, Tekçiçek M, Şimşek-Kiper PÖ.
    Eur J Med Genet; 2023 Apr 01; 66(4):104708. PubMed ID: 36720430
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