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Journal Abstract Search


147 related items for PubMed ID: 14598343

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  • 3. Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
    Connacher AA, Forsyth CC, Stewart WK.
    J Med Genet; 1987 Feb; 24(2):116-8. PubMed ID: 3560170
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  • 4. [Orofaciodigital syndrome type I in a mother and daughter].
    Guerrero Vázquez J, Cazenave Bernal A, de Paz Aparicio P, Luengo Casasola JL, Garcés Ramos A, López Vázquez JL, Hoyos Madrid JJ.
    An Esp Pediatr; 1988 Jan; 28(1):59-62. PubMed ID: 3279888
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  • 5. Further heterogeneity of the oral-facial-digital syndromes.
    Townes PL, Wood BP, McDonald JV.
    Am J Dis Child; 1976 May; 130(5):548-54. PubMed ID: 179315
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  • 7. Oral-facial-digital syndrome type I in a newborn male.
    Gillerot Y, Heimann M, Fourneau C, Verellen-Dumoulin C, Van Maldergem L.
    Am J Med Genet; 1993 May 15; 46(3):335-8. PubMed ID: 8488880
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  • 8. Classification of limb anomalies in oral-facial-digital syndromes.
    al-Qattan MM, Hassanain JM.
    J Hand Surg Br; 1997 Apr 15; 22(2):250-2. PubMed ID: 9149999
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  • 9. Oral-facial-digital syndrome type 1 coexisting with polycystic kidney disease.
    Scolari F, Valzorio B, Carli O, Vizzardi V, Grazioli L, Bondioni MP, Maiorca R.
    Contrib Nephrol; 1997 Apr 15; 122():58-60. PubMed ID: 9399040
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  • 10. Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?
    Morán-Barroso V, Valdés Flores M, García-Cavazos R, Kofman-Alfaro S, Saavedra-Ontiveros D.
    Clin Dysmorphol; 1998 Jan 15; 7(1):55-7. PubMed ID: 9546832
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  • 15. INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
    Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A.
    Clin Genet; 2018 Jun 15; 93(6):1205-1209. PubMed ID: 29451301
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  • 17. Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.
    Stoll C, Sauvage P.
    Ann Genet; 2002 Jun 15; 45(2):59-62. PubMed ID: 12119212
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  • 18. Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.
    Orstavik KH, Tangsrud SE, Nordshus T, Finnanger AM, Hellum C, Gjessing E.
    J Med Genet; 1992 Nov 15; 29(11):827-30. PubMed ID: 1453437
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  • 19. The oro-facial-digital syndrome.
    Whelan DT, Feldman W, Dost I.
    Clin Genet; 1975 Sep 15; 8(3):205-12. PubMed ID: 1175324
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  • 20. Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome.
    Schock EN, Chang CF, Struve JN, Chang YT, Chang J, Delany ME, Brugmann SA.
    Dis Model Mech; 2015 Aug 01; 8(8):855-66. PubMed ID: 26044959
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