Search Results - Holoubkova, Lenka

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    De Novo Pathogenic Variant in FBRSL1 , Non OMIM Gene Paralogue AUTS2 , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature

    De Novo Pathogenic Variant in FBRSL1 , Non OMIM Gene Paralogue AUTS2 , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and R... by Bukvic, Nenad, De Rinaldis, Marta, Chetta, Massimiliano, Trabacca, Antonio, Bassi, Maria Teresa, Marsano, René Massimiliano, Holoubkova, Lenka, Rivieccio, Maria, Oro, Maria, Resta, Nicoletta, Kerkhof, Jennifer, Sadikovic, Bekim, Viggiano, Luigi

    Published in Genes
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