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Journal Abstract Search

131 related items for PubMed ID: 9415472

  • 1. Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.
    Bertola DR, Wolf LM, Toriello HV, Netzloff ML.
    Am J Med Genet; 1997 Dec 31; 73(4):442-6. PubMed ID: 9415472
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  • 3. Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?
    Bindewald B, Ulmer H, Müller U.
    Am J Med Genet; 1994 Apr 01; 50(2):173-6. PubMed ID: 8010348
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  • 6. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.
    Passos-Bueno MR, Marie SK, Monteiro M, Neustein I, Whittle MR, Vainzof M, Zatz M.
    Am J Med Genet; 1994 Aug 15; 52(2):170-3. PubMed ID: 7802003
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  • 7. Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
    van den Ende JJ, van Bever Y, Rodini ES, Richieri-Costa A.
    Am J Med Genet; 1992 Feb 15; 42(4):467-9. PubMed ID: 1609830
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  • 9. Newly recognized autosomal recessive faciothoracoskeletal syndrome.
    Richieri-Costa A, Guion-Almeida ML, Lauris JR, Ferreira DM.
    Am J Med Genet; 1994 Jan 15; 49(2):224-8. PubMed ID: 8116673
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  • 10. Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.
    Toriello HV, Higgins JV, Miller T.
    Am J Med Genet; 1993 Oct 01; 47(5):797-9. PubMed ID: 8267015
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  • 15. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
    Stratakis CA, Lin JP, Rennert OM.
    Am J Med Genet; 1998 Sep 23; 79(3):209-14. PubMed ID: 9788564
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  • 16. Trichomegaly, pigmentary degeneration of the retina and growth disturbances. A probable autosomal recessive disorder.
    Mathieu M, Goldfarb A, Berquin P, Boudailliez B, Labeille B, Piussan C.
    Genet Couns; 1991 Sep 23; 2(2):115-8. PubMed ID: 1781955
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  • 17. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance.
    Sybert VP.
    Am J Med Genet; 1989 Feb 23; 32(2):266-7. PubMed ID: 2929669
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  • 18. Larsen syndrome in siblings with consanguineous parents.
    Topley JM, Varady E, Lestringant GG.
    Clin Dysmorphol; 1994 Jul 23; 3(3):263-5. PubMed ID: 7526939
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  • 19. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Miny P, Lenz W.
    Am J Med Genet; 1985 Jun 23; 21(2):317-24. PubMed ID: 4014313
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