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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

227 related items for PubMed ID: 23664117

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  • 6. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
    Vorster AA, Beighton P, Ramesar RS.
    Clin Genet; 2015 May; 87(5):492-5. PubMed ID: 24766538
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  • 8. B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.
    Coetzer KC, Dieckerhoff J, Wollnik B, Moosa S.
    Eur J Med Genet; 2023 Oct; 66(10):104829. PubMed ID: 37657630
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  • 13. Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
    Mizumoto S, Yamada S, Sugahara K.
    Biomed Res Int; 2015 Oct; 2015():861752. PubMed ID: 26582078
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  • 15. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.
    Miyake N, Kosho T, Matsumoto N.
    Adv Exp Med Biol; 2014 Oct; 802():145-59. PubMed ID: 24443026
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  • 16. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
    Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M.
    Genes (Basel); 2019 Aug 21; 10(9):. PubMed ID: 31438591
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  • 20. Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
    Paganini C, Costantini R, Superti-Furga A, Rossi A.
    FEBS J; 2019 Aug 21; 286(15):3008-3032. PubMed ID: 31286677
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