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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

139 related items for PubMed ID: 12784311

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  • 7. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL, Beighton P.
    Genet Couns; 1996; 7(3):219-25. PubMed ID: 8897044
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  • 8. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
    Smith W, Ji HP, Mouradian W, Pagon RA.
    Am J Med Genet; 1999 Sep 17; 86(3):245-52. PubMed ID: 10482874
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  • 10. Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
    Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V.
    J Bone Miner Res; 2024 Apr 19; 39(3):287-297. PubMed ID: 38477767
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  • 11. A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.
    Al Kaissi A, Chehida FB, Ghachem MB, Klaushofer K, Grill F.
    Skeletal Radiol; 2008 May 19; 37(5):469-73. PubMed ID: 18256824
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  • 12. Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl.
    Ricci R, Aulisa L, Antuzzi D, Serra F, Segni G, Kozlowski K.
    Pediatr Radiol; 1995 May 19; 25(4):303-5. PubMed ID: 7567245
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  • 13. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.
    Kozlowski K, Beighton P.
    Rofo; 1984 Sep 19; 141(3):337-41. PubMed ID: 6435203
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  • 17. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.
    Honey EM.
    S Afr Med J; 2016 May 25; 106(6 Suppl 1):S54-6. PubMed ID: 27245527
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  • 18. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
    Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ.
    Am J Hum Genet; 2011 Dec 09; 89(6):760-6. PubMed ID: 22152677
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  • 19. Spine deformity in spondyloepimetaphyseal dysplasia.
    Winter RB, Bloom BA.
    J Pediatr Orthop; 1990 Dec 09; 10(4):535-9. PubMed ID: 2358495
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  • 20. Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
    Chimusa ER, Beighton P, Kumuthini J, Ramesar RS.
    Hum Mol Genet; 2019 Apr 01; 28(7):1053-1063. PubMed ID: 30358852
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