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Journal Abstract Search


143 related items for PubMed ID: 699354

  • 1.
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  • 2. Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).
    Harding AE, Hall CM, Baraitser M.
    J Med Genet; 1982 Apr; 19(2):110-5. PubMed ID: 7077621
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  • 5. Conductive deafness with ptosis and skeletal malformations in sibs: a probably autosomal recessive disorder.
    Jackson LG, Barr MA.
    Birth Defects Orig Artic Ser; 1978 Apr; 14(6B):199-204. PubMed ID: 728561
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  • 7. Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy.
    Sellars S, Beighton P.
    Clin Genet; 1983 May; 23(5):376-9. PubMed ID: 6851230
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  • 9. Frontometaphyseal Dysplasia. Evidence for dominant inheritance.
    Weiss L, Reynolds WA, Szymanowski RT.
    Am J Dis Child; 1976 Mar; 130(3):259-61. PubMed ID: 1258835
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  • 10. [Hereditary progressive arthro-ophthalmopathy (Stickler syndrome)].
    Bernd L, Niethard FU, Schiltenwolf M.
    Z Orthop Ihre Grenzgeb; 1989 Mar; 127(3):358-61. PubMed ID: 2750264
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  • 11. [Marshall syndrome. 2 new cases].
    Nguyen J, Philip N, Arnaud JP, Sibille G, Tisne C, James F.
    Arch Fr Pediatr; 1988 Jan; 45(1):49-51. PubMed ID: 3365105
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  • 14. Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli.
    Beals RK.
    Clin Orthop Relat Res; 1977 Jun; (125):32-5. PubMed ID: 880775
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  • 15. Autosomal dominant atresia of the auditory canal and conductive deafness.
    Robinow M, Jahrsdoerfer RA.
    Am J Med Genet; 1979 Jun; 4(1):89-94. PubMed ID: 495656
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  • 19. Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome.
    Paes-Alves AF, Azevêdo ES, Sousa MG, Almeida-Melo N, Oliveira-Filho OJ.
    Am J Med Genet; 1991 Nov 01; 41(2):141-52. PubMed ID: 1785624
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  • 20. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.
    Sybert VP, Byers PH, Hall JG.
    Clin Genet; 1979 Feb 01; 15(2):160-6. PubMed ID: 104811
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