Rezultati - Anna‐Lena Baasch

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    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hy... od Anna‐Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen‐Kaesbach, Alexander Hoischen, Katja Lohmann

    Izdano 2014
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