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Journal Abstract Search

89 related items for PubMed ID: 9125322

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  • 6. Stüve-Wiedemann syndrome and related bent bone dysplasias.
    Akawi NA, Ali BR, Al-Gazali L.
    Clin Genet; 2012 Jul; 82(1):12-21. PubMed ID: 22300393
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  • 9. On the phenotypic overlap between "severe" oto-palato digital type II syndrome and Larsen syndrome. Variable manifestation of a single autosomal dominant gene.
    Alembik Y, Stoll C, Messer J.
    Genet Couns; 1997 Jul; 8(2):133-7. PubMed ID: 9219012
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  • 10. [Morphology of the dominant and recessive form of chondrodysplasia punctata].
    Friedmann W, Jimenez E, Vogel M, Schulz F, Neckel E, Taube KJ.
    Verh Dtsch Ges Pathol; 1982 Jul; 66():156-9. PubMed ID: 7184235
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  • 11. Advances in bone dysplasias.
    Spranger J.
    Prog Clin Biol Res; 1982 Jul; 103 Pt B():323-32. PubMed ID: 7163228
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  • 13. Osteochondrodysplasias in South Africa.
    Beighton P.
    Am J Med Genet; 1996 May 03; 63(1):7-11. PubMed ID: 8723079
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  • 14. Skeletal dysplasias and the osteoarthritic phenotype.
    Williams CJ, Jimenez SA.
    Best Pract Res Clin Rheumatol; 2003 Dec 03; 17(6):1005-18. PubMed ID: 15123048
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  • 15. [Advances in the knowledge of osteochondrodysplasias: new international classification and prenatal diagnosis].
    Bueno M, Bueno G, Pérez González JM.
    An Esp Pediatr; 1993 Aug 03; 39(2):91-8. PubMed ID: 8239221
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  • 16. [Are the clover-shaped skull syndrome and thanatophoric dysplasia the same disease entity?].
    Domański J, Huzior-Bałajewicz A, Puczyński J.
    Przegl Lek; 1986 Aug 03; 43(11):729-33. PubMed ID: 3575776
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  • 17. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
    Shears DJ, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM.
    Am J Med Genet; 2002 Jun 15; 110(2):153-7. PubMed ID: 12116253
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  • 18. Bone dysplasias due to abnormalities in type II collagen.
    Maroteaux P.
    Rev Rhum Engl Ed; 1998 Apr 15; 65(4):221-4. PubMed ID: 9599789
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  • 19. Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism.
    Meira JGC, Sarno MAC, Faria ÁCO, Yamamoto GL, Bertola DR, Scheibler GG, Tavares DF, Acosta AX.
    Rev Bras Ginecol Obstet; 2018 Sep 15; 40(9):570-576. PubMed ID: 30231296
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  • 20. [International nomenclature of constitutional bone diseases (the Paris nomenclature)].
    Spranger J.
    Fortschr Geb Rontgenstr Nuklearmed; 1971 Sep 15; 115(3):283-7. PubMed ID: 5107245
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