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Journal Abstract Search

215 related items for PubMed ID: 8135294

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  • 9. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.
    Benaicha A, Dommergues M, Jouannic JM, Jacquette A, Alexandre M, Le Merrer M, Ducou Le Pointe H, Garel C.
    Ultrasound Obstet Gynecol; 2009 Dec; 34(6):724-6. PubMed ID: 19856318
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  • 10. Chondrodysplasia punctata. Report of parent-to-child transmission.
    Jenkins T, Noll B.
    S Afr Med J; 1978 Jul 01; 54(1):22-5. PubMed ID: 694691
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  • 11. Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus.
    Jansen V, Sarafoglou K, Rebarber A, Greco A, Genieser NB, Wallerstein R.
    J Ultrasound Med; 2000 Oct 01; 19(10):719-22. PubMed ID: 11026586
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  • 12. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
    Hertzberg BS, Kliewer MA, Decker M, Miller CR, Bowie JD.
    J Ultrasound Med; 1999 Oct 01; 18(10):715-8. PubMed ID: 10511306
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  • 13. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
    Wessels MW, Den Hollander NJ, De Krijger RR, Nikkels PG, Brandenburg H, Hennekam R, Willems PJ.
    Am J Med Genet A; 2003 Jul 01; 120A(1):97-104. PubMed ID: 12794700
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  • 15. A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.
    Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF.
    Pediatr Dev Pathol; 2007 Jul 01; 10(2):142-8. PubMed ID: 17378690
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  • 16. Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
    Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA.
    Pediatr Dermatol; 2014 Jul 01; 31(4):493-6. PubMed ID: 24915996
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  • 18. Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata.
    Létard P, Wintjens R, Van-Gils J, Martinovic J, Laffargue F, Dufernez F, Egloff M.
    Ultrasound Obstet Gynecol; 2024 Aug 01; 64(2):259-261. PubMed ID: 38180709
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  • 19. Chondrodysplasia punctata. Conradi-Hünermann syndrome.
    Edidin DV, Esterly NB, Bamzai AK, Fretzin DF.
    Arch Dermatol; 1977 Oct 01; 113(10):1431-4. PubMed ID: 911172
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  • 20. Conradi-Hunermann syndrome: a case report.
    Louvar RD, Block WM, Martin LR.
    Clin Pediatr (Phila); 1974 Aug 01; 13(8):680-5. PubMed ID: 4448037
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