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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

114 related items for PubMed ID: 8484414

  • 1.
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  • 2. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Miny P, Lenz W.
    Am J Med Genet; 1985 Jun; 21(2):317-24. PubMed ID: 4014313
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  • 3. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
    van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG.
    Am J Med Genet; 1997 Jun 13; 70(3):315-23. PubMed ID: 9188673
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  • 4. Oto-spondylo-megaepiphyseal dysplasia (OSMED).
    Giedion A, Brandner M, Lecannellier J, Muhar U, Prader A, Sulzer J, Zweymüller E.
    Helv Paediatr Acta; 1982 Sep 13; 37(4):361-80. PubMed ID: 7153059
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  • 5. Fountain syndrome: further delineation of the clinical syndrome and follow-up data.
    Van Buggenhout GJ, Van Ravenswaaij-Arts CM, Renier WO, Van de Wiel MP, Trommelen JC, Pijkels E, Hamel BC, Fryns JP.
    Genet Couns; 1996 Sep 13; 7(3):177-86. PubMed ID: 8897038
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  • 6. Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.
    Visosky AM, Johnson J, Bingea B, Gurney T, Lalwani AK.
    Laryngoscope; 2003 Sep 13; 113(9):1508-14. PubMed ID: 12972925
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  • 7. [2 cases of oto-spondylo-megaephyseal dysplasia].
    Bigozzi M, Cerboni F, Pellegrini A.
    Acta Otorhinolaryngol Ital; 2001 Jun 13; 21(3):179-86. PubMed ID: 11677845
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  • 8. RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.
    Kääriäinen H, Ryöppy S, Norio R.
    Am J Med Genet; 1989 Jul 13; 33(3):346-51. PubMed ID: 2801769
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  • 9. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
    Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.
    Am J Med Genet A; 2006 Jun 01; 140(11):1189-95. PubMed ID: 16637051
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  • 10. [Marshall's syndrome or Stickler's syndrome? Discussion apropos of a family].
    Taillard F, Desbois JC, Delepine N, Allaneau C, Wyart D.
    Ann Pediatr (Paris); 1987 Apr 01; 34(4):279-84. PubMed ID: 3605974
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  • 11. Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.
    Hartsfield JK, Hall BD, Grix AW, Kousseff BG, Salazar JF, Haufe SM.
    Am J Med Genet; 1993 Mar 01; 45(5):552-7. PubMed ID: 7681250
    [Abstract] [Full Text] [Related]

  • 12. Hearing loss in oto-spondylo-megaepiphyseal dysplasia (OSMED): case studies.
    Katbamna B, Westbrook MK.
    J Am Acad Audiol; 1996 Oct 01; 7(5):365-9. PubMed ID: 8898273
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  • 15. Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia.
    Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L.
    Am J Med Genet; 1992 Aug 01; 43(6):989-95. PubMed ID: 1415350
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