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Journal Abstract Search

156 related items for PubMed ID: 4783115

  • 21. Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.
    Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J, Moser A.
    Clin Genet; 1990 Aug; 38(2):84-93. PubMed ID: 2208770
    [Abstract] [Full Text] [Related]

  • 22. Brachytelephalangic chondrodysplasia punctata in a female child.
    Peter MO, Jeandidier E, Maroteaux P.
    J Pediatr Orthop B; 1997 Jan; 6(1):24-6. PubMed ID: 9039663
    [Abstract] [Full Text] [Related]

  • 23. Chondrodysplasia punctata with retinal colobomas: radiographic findings.
    Herman TE.
    J Perinatol; 1998 Jan; 18(2):152-5. PubMed ID: 9605308
    [No Abstract] [Full Text] [Related]

  • 24. Tracheal stenosis as a complication of chondrodysplasia punctata.
    Kaufmann HJ, Mahboubi S, Spackman TJ, Capitanio MA, Kirkpatrick J.
    Ann Radiol (Paris); 1976 Jan; 19(1):203-9. PubMed ID: 984705
    [No Abstract] [Full Text] [Related]

  • 25. [2 cases of dysplasia epiphysalis punctata].
    Washimi H, Inagaki Y, Kaneko T.
    Seikei Geka; 1969 Sep; 20(11):1156-61. PubMed ID: 5389056
    [No Abstract] [Full Text] [Related]

  • 26. Chondrodysplasia punctata: a case report.
    Mulpruek P, Mulpruek T, Phatrakom C.
    J Med Assoc Thai; 1992 Jan; 75 Suppl 1():119-24. PubMed ID: 1402454
    [Abstract] [Full Text] [Related]

  • 27. [Non-rhizomelic chondrodysplasia punctata. Presentation of a clinical case].
    Livolsi P.
    Pediatr Med Chir; 1988 Jan; 10(6):659-61. PubMed ID: 3244547
    [Abstract] [Full Text] [Related]

  • 28. Unusual radiographic manifestations of chondrodysplasia punctata.
    Lawrence JJ, Schlesinger AE, Kozlowski K, Poznanski AK, Bacha L, Dreyer GL, Barylak A, Sillence DO, Rager K.
    Skeletal Radiol; 1989 Jan; 18(1):15-9. PubMed ID: 2711205
    [Abstract] [Full Text] [Related]

  • 29. [Multiple epiphyseal dysplasia tarda (Rubin) in one family].
    Takechi H, Kobutake K.
    Seikei Geka; 1969 Feb; 20(3):340-7. PubMed ID: 5814461
    [No Abstract] [Full Text] [Related]

  • 30. Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers.
    Pfeiffer RA, Jünemann G, Polster J, Bauer H.
    Clin Genet; 1973 Feb; 4(2):141-4. PubMed ID: 4730943
    [No Abstract] [Full Text] [Related]

  • 31. Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
    Meyer S, Löffler G, Gencik M, Fries P, Papanagiotou P, Oehl-Jaschkowitz B, Gortner L.
    Am J Med Genet A; 2013 Mar; 161A(3):626-9. PubMed ID: 23401300
    [No Abstract] [Full Text] [Related]

  • 32. [Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type].
    Spranger JW, Bidder U, Voelz C.
    Fortschr Geb Rontgenstr Nuklearmed; 1971 Mar; 114(3):327-35. PubMed ID: 4995567
    [No Abstract] [Full Text] [Related]

  • 33. [Some aspects of chondrodystrophia calcificans congenita].
    Bergström K, Gustavson KH, Jorulf H.
    Nord Med; 1971 May 20; 85(20):634. PubMed ID: 5580911
    [No Abstract] [Full Text] [Related]

  • 34. Dominant chondrodysplasia punctata with neurologic symptoms.
    Curless RG.
    Neurology; 1983 Aug 20; 33(8):1095-7. PubMed ID: 6683813
    [Abstract] [Full Text] [Related]

  • 35. Metaphyseal dysostosis type Schmid.
    Dimson SB.
    Proc R Soc Med; 1968 Dec 12; 61(12):1260-1. PubMed ID: 5726999
    [No Abstract] [Full Text] [Related]

  • 36. Radiological case of the month. Dominant X-linked chondrodysplasia punctata.
    Kozlowski K, Bates EH, Young LW, Wood BP.
    Am J Dis Child; 1988 Nov 12; 142(11):1233. PubMed ID: 3177333
    [No Abstract] [Full Text] [Related]

  • 37. [Dysplasia epiphysialis punctata caused by failure of proliferatin cartilage: achondroplasia and hypochondroplasia].
    Delgado A, Gonzalez E, Imizcoz FL, Bueno M, San Julian M.
    Rev Med Univ Navarra; 1971 Jun 12; 15(2):101-16. PubMed ID: 5162172
    [No Abstract] [Full Text] [Related]

  • 38. Conradi-Hunermann syndrome: a case report.
    Louvar RD, Block WM, Martin LR.
    Clin Pediatr (Phila); 1974 Aug 12; 13(8):680-5. PubMed ID: 4448037
    [No Abstract] [Full Text] [Related]

  • 39. [Hereditary chondrodysplasias].
    Piffaretti PG.
    Radiol Clin Biol; 1969 Aug 12; 38(2):97-114. PubMed ID: 4240528
    [No Abstract] [Full Text] [Related]

  • 40. Genetics casebook. X-linked dominant chrondrodyplasia punctata without stippled epiphyses.
    Herman TE, McAlister WH, Mallory SB, Tychsen L.
    J Perinatol; 1997 Aug 12; 17(2):168-71. PubMed ID: 9134521
    [No Abstract] [Full Text] [Related]

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