Výsledky vyhledávání - Myrthe van den Born

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  1. 1
    Idiopathic noncirrhotic portal hypertension is associated with poor survival: results of a long‐term cohort study

    Idiopathic noncirrhotic portal hypertension is associated with poor survival: results of a long‐term cohort study Autor Jeoffrey Schouten, F. Nevens, Bettina E. Hansen, Wim Laleman, Myrthe van den Born, Mina Komuta, Tania Roskams, Joanne Verheij, Harry L.A. Janssen

    Vydáno 2012
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  2. 2
    The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study

    The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study Autor Geerke M. Eggenhuizen, Attie T. J. I. Go, Zoë Sauter, Mariëtte J.V. Hoffer, Monique C. Haak, Geert Geeven, Karin E. M. Diderich, Marieke Joosten, Myrthe van den Born, Malgorzata I. Srebniak, Diane Van Opstal

    Vydáno 2024
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  3. 3
    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature Autor Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Mélanie Fradin, Yline Capri, Delphine Héron, Marie‐Christine Nouguès, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair T. Pagnamenta, Jenny C. Taylor, Yoshimi Sogawa, Diana Johnson, Helen V. Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux‐Boucher, M. Kœnig, Cyril Mignot, Usha Kini, Christophe Philippe

    Vydáno 2018
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  4. 4
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis Autor Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung‐Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven A. Skinner, Raymond J. Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endzinienė, Fanny Kortüm, Natasha J. Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne G. Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter Krawitz

    Vydáno 2018
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  5. 5
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay Autor Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, D.L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, F. Lucy Raymond, Hanka Venselaar, Florence Démurger, Claudia Soler‐Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel S. Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sébastien Moutton, Christophe Philippe, Frédéric Tran Mau‐Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revençu, Daniel Ward, Kaitlyn Burns, Ian D. Krantz, Sarah E. Raible, Jill R. Murrell, Kathleen H. Wood, Megan T. Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P.M. de Brouwer

    Vydáno 2020
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