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  1. 1
    Homozygosity for the W151X stop mutation in the ?7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

    Homozygosity for the W151X stop mutation in the ?7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis von L ffler, Judith, Trojovsky, Alexander, Casati, Bettina, Kroisel, Peter M., Utermann, Gerd


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  2. 2
    Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)

    Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7) von Löffler, Judith, Utermann, Barbara, Duba, Hans C., Mayr, Udo, Utermann, Gerd, Erdel, Martin


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