Search Results - Libe Gradstein

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  1. 1
    Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

    Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation by Yonatan Perez, Libe Gradstein, Hagit Flusser, Barak Markus, Idan Cohen, Yshaia Langer, Mira Marcus, Tova Lifshitz, Rotem Kadir, Ohad S. Birk

    Published 2013
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  2. 2
    High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

    High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2 by Shikma Mordechai, Libe Gradstein, Annika Pasanen, Rivka Ofir, Khalil El Amour, Jaime Levy, Nadav Belfair, Tova Lifshitz, S. Weitz Joshua, Ginat Narkis, Khalil Elbedour, Johanna Myllyharju, Ohad S. Birk

    Published 2011
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  3. 3
    SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

    SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome by Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halpérin, S. Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A. Rutter, Daniel Landau, Ohad S. Birk

    Published 2017
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  4. 4
    SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

    SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome by Ohad Wormser, Libe Gradstein, Yuval Yogev, Yonatan Perez, Rotem Kadir, Inna Goliand, Yair Sadka, Saad El Riati, Hagit Flusser, Dikla Nachmias, Ruth Birk, Muhamad Iraqi, Einat Kadar, Roni Gat, Max Drabkin, Daniel Halpérin, Amir Horev, Sara Sivan, Uri Abdu, Natalie Elia, Ohad S. Birk

    Published 2019
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  5. 5
    A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

    A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) by Dror Sharon, Tamar Ben‐Yosef, Nitza Goldenberg‐Cohen, Eran Pras, Libe Gradstein, Shiri Zayit‐Soudry, Eedy Mezer, Dinah Zur, Anan H Abbasi, Christina Zeitz, Frans P.M. Cremers, Muhammad Imran Khan, Jaime Levy, Ygal Rotenstreich, Ohad S. Birk, Miriam Ehrenberg, Rina Leibu, Hadas Newman, Noam Shomron, Eyal Banin, Ido Perlman

    Published 2019
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