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Journal Abstract Search

187 related items for PubMed ID: 9475598

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  • 4. Fetus with renal agenesis and Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Eng B, Waye JS, Farrell SA, Sirkin WL.
    Am J Med Genet A; 2003 Jul 15; 120A(2):305-7. PubMed ID: 12833423
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  • 7. Smith-Lemli-Opitz syndrome: further delineation of the phenotype.
    Worthington S, Goldblatt J.
    Clin Dysmorphol; 1997 Jul 15; 6(3):263-6. PubMed ID: 9220198
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  • 11. Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn.
    Wegner RD, Entezami M, Knoll U, Horn D, Sohl S, Becker R.
    Am J Med Genet A; 2004 Jan 01; 124A(1):85-8. PubMed ID: 14679592
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  • 13. Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.
    Tierney E, Nwokoro NA, Kelley RI.
    Ment Retard Dev Disabil Res Rev; 2000 Jan 01; 6(2):131-4. PubMed ID: 10899806
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  • 17. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
    Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE.
    Am J Med Genet; 2002 Jun 15; 110(2):103-8. PubMed ID: 12116246
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  • 18. Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
    Debeer P, Vandenbossche L, de Ravel TJ, Desloovere C, De Smet L, Huysmans C, Thoelen R, Vermeesch J, Van de Ven WJ, Fryns JP.
    Clin Genet; 2004 Feb 15; 65(2):153-5. PubMed ID: 14984476
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  • 19. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
    Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD.
    Hum Mol Genet; 2001 Mar 15; 10(6):555-64. PubMed ID: 11230174
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