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Journal Abstract Search

242 related items for PubMed ID: 12042125

  • 1. [Schwartz-Jampel syndrome type 2 versus Stüve-Wiedemann syndrome].
    Navarrete Faubel FE, Pérez Aytés A, Pastor Rosado J, Mascarell Gregoria A.
    An Esp Pediatr; 2002 May; 56(5):473-4. PubMed ID: 12042125
    [No Abstract] [Full Text] [Related]

  • 2. The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
    Dimitrov B, Balikova I, Bradinova I, Zahariev D, Popova A, Simeonov E, De Smet L, Devriendt K, Fryns JP.
    Genet Couns; 2005 May; 16(2):181-6. PubMed ID: 16080300
    [No Abstract] [Full Text] [Related]

  • 3. [Myotonic chondrodystrophy (or Schwartz-Jampel syndrome). Study of siblings and review of the literature].
    Desbois JC, Guyou JM, Grenet P, Herrault A.
    Ann Pediatr (Paris); 1977 Sep; 24(8-9):563-74. PubMed ID: 16211910
    [No Abstract] [Full Text] [Related]

  • 4. Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.
    Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N.
    Clin Dysmorphol; 1998 Oct; 7(4):257-62. PubMed ID: 9823491
    [Abstract] [Full Text] [Related]

  • 5. Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies.
    Spaans F, Theunissen P, Reekers AD, Smit L, Veldman H.
    Muscle Nerve; 1990 Jun; 13(6):516-27. PubMed ID: 2366824
    [Abstract] [Full Text] [Related]

  • 6. [Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate].
    Reither M, Urban M, Kozlowski KS, Pritsch M, Tegtmeyer FK.
    Klin Padiatr; 2006 Jun; 218(2):79-84. PubMed ID: 16506108
    [Abstract] [Full Text] [Related]

  • 7. Stiffness, Facial Dysmorphism, and Skeletal Abnormalities: Schwartz-Jampel Syndrome 1A.
    Padmanabha H, Suthar R, Sankhyan N, Singhi P.
    J Pediatr; 2018 Sep; 200():286-286.e1. PubMed ID: 29866592
    [No Abstract] [Full Text] [Related]

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  • 9. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
    Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, De Lonlay P, Giedion A, Maroteaux P, Le Merrer M.
    Am J Med Genet; 1998 Jun 30; 78(2):146-9. PubMed ID: 9674905
    [Abstract] [Full Text] [Related]

  • 10. Patient presentation.
    Feingold M, Bull MJ, Darling DB.
    Birth Defects Orig Artic Ser; 1974 Jun 30; 10(7):87-91. PubMed ID: 4419732
    [No Abstract] [Full Text] [Related]

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  • 12. A case of Schwartz-Jampel syndrome with cleft palate.
    Abdel-Aziz M, Azab NA.
    Int J Pediatr Otorhinolaryngol; 2009 Nov 30; 73(11):1601-3. PubMed ID: 19733405
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  • 15. The Schwartz-Jampel syndrome.
    al Gazali LI.
    Clin Dysmorphol; 1993 Jan 30; 2(1):47-54. PubMed ID: 8298738
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  • 16. Differential diagnosis of pachydermoperiostosis.
    Verhoeve L, Degreef H, Marchal G, Staessen J.
    Arch Belg Dermatol; 1974 Jan 30; 30(4):209-13. PubMed ID: 4469416
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  • 19. [Differential diagnostic views on enchrondral dysostosis].
    Köster D.
    Z Orthop Ihre Grenzgeb; 1968 Jul 30; 105(1):407-17. PubMed ID: 4247801
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