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Journal Abstract Search

198 related items for PubMed ID: 4014313

  • 21.
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  • 23. Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern.
    Toledo C, Navarro-Barros R, Alba L, Muñoz E.
    Ann Genet; 1999; 42(3):170-3. PubMed ID: 10526661
    [Abstract] [Full Text] [Related]

  • 24. Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome.
    Nevin NC, Thomas PS, Calvert J, Reid MM.
    Am J Med Genet; 1982 Nov; 13(3):325-32. PubMed ID: 7180877
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  • 25. A new autosomal recessive lethal chondrodystrophy with congenital hydrops.
    Greenberg CR, Rimoin DL, Gruber HE, DeSa DJ, Reed M, Lachman RS.
    Am J Med Genet; 1988 Mar; 29(3):623-32. PubMed ID: 3377005
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  • 27. [Robinow's syndrome associated with deafness].
    Samoud A, Menif K, Boulaares M, Ben Dridi MF.
    Arch Fr Pediatr; 1993 Dec; 50(10):897-9. PubMed ID: 8053771
    [Abstract] [Full Text] [Related]

  • 28. Hypertelorism-microtia-clefting (HMC) syndrome.
    Verloes A.
    Genet Couns; 1994 Dec; 5(3):283-7. PubMed ID: 7811429
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  • 30. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.
    Klinge L, Schaper J, Wieczorek D, Voit T.
    Neuropediatrics; 2002 Dec; 33(6):309-13. PubMed ID: 12571786
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  • 33. Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.
    Koppel R, Friedman S, Fallet S.
    Am J Med Genet; 1996 Aug 23; 64(3):485-7. PubMed ID: 8862626
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  • 35. Mesomelic limb shortness: a previously unreported autosomal recessive type.
    Reardon W, Hall CM, Slaney S, Huson SM, Connell J, al-Hilaly N, Fixsen J, Baraitser M, Winter RM.
    Am J Med Genet; 1993 Oct 01; 47(5):788-92. PubMed ID: 8267013
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  • 36. [Distal renal tubular acidosis: report of 3 cases].
    Guibaud P, Parchoux B, Langue J, Bouissou F, Barthe P, Larbre F.
    J Genet Hum; 1979 Jun 01; 27(2):157-66. PubMed ID: 541679
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  • 37. Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome?
    Moog U, Bleeker-Wagemakers EM, Crobach P, Vles JS, Schrander-Stumpel CT.
    Am J Med Genet; 1998 Jul 07; 78(3):263-6. PubMed ID: 9677063
    [Abstract] [Full Text] [Related]

  • 38. Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.
    Borochowitz Z, Barak M, Hershkowitz S.
    Am J Med Genet; 1991 Apr 01; 39(1):91-6. PubMed ID: 1867270
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  • 39. Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia).
    Maclean RN, Prater WK, Lozzio CB.
    Am J Med Genet; 1983 Feb 01; 14(2):373-80. PubMed ID: 6837632
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  • 40.
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