Hasil Pencarian - Jan Verheijen

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  1. 1
    P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases

    P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases oleh Jan Verheijen, Nancy William, Marta Figueiral, Rory Olson, Deepak Panwar, Collin Osborne, Filippo Pinto e Vairo, Eric Klee

    Diterbitkan 2024-01-01
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  2. 2
    P341: Identification of novel variants and phenotypic expansion in OGT-CDG

    P341: Identification of novel variants and phenotypic expansion in OGT-CDG oleh Jan Verheijen, Lotte Vanhye, Ayesha Niaz Shaikh, Silvia Radenkovic, Wasantha Ranatunga, Pavel Pichurin, Joan Steyermark, Eric Klee, Eva Morava-Kozicz

    Diterbitkan 2023-01-01
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  3. 3
    Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

    Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG oleh Sangeetha Iyer, Feba S. Sam, Nina DiPrimio, Graeme Preston, Jan Verheijen, Kausalya Murthy, Zachary Parton, Hillary Tsang, Jessica Lao, Eva Morava, Ethan O. Perlstein

    Diterbitkan 2019-11-01
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