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Journal Abstract Search

158 related items for PubMed ID: 21910225

  • 1. Axial spondylometaphyseal dysplasia: additional reports.
    Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G.
    Am J Med Genet A; 2011 Oct; 155A(10):2521-8. PubMed ID: 21910225
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  • 2. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
    Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M.
    Am J Med Genet A; 2010 Jun; 152A(6):1550-4. PubMed ID: 20503334
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  • 4. Axial spondylometaphyseal dysplasia.
    Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
    Eur J Pediatr; 1997 Aug; 156(8):627-30. PubMed ID: 9266195
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  • 15. A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.
    Kulkarni ML, Baskar K, Kulkarni PM.
    Am J Med Genet A; 2007 Jan 01; 143A(1):69-75. PubMed ID: 17163538
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  • 17. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
    Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P, Deciphering Developmental Disorders StudyWellcome Sanger Institute, Cambridge, UK., Smithson S.
    Am J Med Genet A; 2019 Sep 01; 179(9):1884-1894. PubMed ID: 31313512
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  • 18. Autosomal recessive omodysplasia: report of three additional cases.
    Masel JP, Kozlowski K, Kiss P.
    Pediatr Radiol; 1998 Aug 01; 28(8):608-11. PubMed ID: 9716634
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  • 19. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
    Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.
    Am J Med Genet A; 2017 Mar 01; 173(3):733-739. PubMed ID: 27888646
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