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Journal Abstract Search

139 related items for PubMed ID: 35978537

  • 1. Osteogenesis Imperfecta Diagnosed in an Active Duty Female Due to CREB3L1 Heterozygosity.
    DeMasters DP, Paulus AO, Scott JN.
    Mil Med; 2023 Jul 22; 188(7-8):e2802-e2804. PubMed ID: 35978537
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  • 6. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
    Symoens S, Malfait F, D'hondt S, Callewaert B, Dheedene A, Steyaert W, Bächinger HP, De Paepe A, Kayserili H, Coucke PJ.
    Orphanet J Rare Dis; 2013 Sep 30; 8():154. PubMed ID: 24079343
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  • 8. Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
    Song Y, Zhao D, Xu X, Lv F, Li L, Jiang Y, Wang O, Xia W, Xing X, Li M.
    Osteoporos Int; 2018 Jun 30; 29(6):1389-1396. PubMed ID: 29520608
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  • 11. Pediatric dental management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta.
    Muhney K, Campbell PR.
    Spec Care Dentist; 2007 Jun 30; 27(6):240-5. PubMed ID: 18683807
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  • 13. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.
    Pepin MG, Byers PH.
    Am J Med Genet C Semin Med Genet; 2015 Dec 30; 169(4):307-13. PubMed ID: 26566591
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  • 14. A rare case of osteogenesis imperfecta combined with complete tooth loss.
    Lu Y, Zhao F, Ren X, Li Z, Yang X, Han J.
    J Pediatr Endocrinol Metab; 2014 Jan 30; 27(1-2):143-7. PubMed ID: 23934635
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  • 17. Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
    Bardai G, Ward LM, Trejo P, Moffatt P, Glorieux FH, Rauch F.
    Osteoporos Int; 2017 Jul 30; 28(7):2095-2101. PubMed ID: 28378289
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  • 18. Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.
    Xu XJ, Lv F, Song YW, Li LJ, Asan, Wei XX, Zhao XL, Jiang Y, Wang O, Xing XP, Xia WB, Li M.
    Clin Chim Acta; 2019 Feb 30; 489():21-28. PubMed ID: 30408480
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  • 19. Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
    Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK.
    J Korean Med Sci; 2013 Jul 30; 28(7):1107-10. PubMed ID: 23853499
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