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PUBMED FOR HANDHELDS

Journal Abstract Search


361 related items for PubMed ID: 19390132

  • 41.
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  • 42. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
    De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G.
    Eur J Hum Genet; 1999 Dec; 7(8):937-40. PubMed ID: 10602371
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  • 43. Recent insights into the Smith-Lemli-Opitz syndrome.
    Yu H, Patel SB.
    Clin Genet; 2005 Nov; 68(5):383-91. PubMed ID: 16207203
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  • 46. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE.
    Am J Med Genet; 2000 Dec 11; 95(4):396-8. PubMed ID: 11186897
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  • 47. Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome.
    Waage-Baudet H, Dunty WC, Dehart DB, Hiller S, Sulik KK.
    Dev Neurosci; 2005 Dec 11; 27(6):378-96. PubMed ID: 16280635
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  • 50. DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Heshka T, Eng B, Feigenbaum AJ, Waye JS.
    Am J Med Genet; 2001 Apr 22; 100(2):162-3. PubMed ID: 11298379
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  • 54. [Historical aspects of the Smith-Lemli-Opitz syndrome].
    Bzdúch V, Behúlová D, Skodová J, Skokňová M, Kozák L.
    Cas Lek Cesk; 2014 Apr 22; 153(1):36-9. PubMed ID: 24506692
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  • 55. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
    Correa-Cerro LS, Wassif CA, Kratz L, Miller GF, Munasinghe JP, Grinberg A, Fliesler SJ, Porter FD.
    Hum Mol Genet; 2006 Mar 15; 15(6):839-51. PubMed ID: 16446309
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