Hasil Pencarian - Rachel Schot

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  1. 1
    Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated

    Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated oleh Natalia Yarovaya, Rachel Schot, Lisa Fodero, Michelle McMahon, Alexis Mahoney, Rachael Williams, Elly Verbeek, An de Bondt, Mark Hampson, Peter van der Spek, Andrew Stubbs, Colin L. Masters, Frans W. Verheijen, Grazia M.S. Mancini, Deon J. Venter

    Diterbitkan 2005-08-01
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  2. 2
    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

    Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome oleh Daphne J. Smits, Jordy Dekker, Hannie Douben, Rachel Schot, Helen Magee, Somayeh Bakhtiari, Katrin Koehler, Angela Huebner, Markus Schuelke, Hossein Darvish, Shohreh Vosoogh, Abbas Tafakhori, Melika Jameie, Ehsan Taghiabadi, Yana Wilson, Margit Shah, Marjon A. van Slegtenhorst, Evita G. Medici-van den Herik, Tjakko J. van Ham, Michael C. Kruer, Grazia M.S. Mancini

    Diterbitkan 2024-10-01
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  3. 3
    Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    Human mutations in integrator complex subunits link transcriptome integrity to brain development. oleh Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

    Diterbitkan 2017-05-01
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  4. 4
    Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

    Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. oleh Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Debbie van den Berg, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

    Diterbitkan 2017-08-01
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