Risultati della ricerca - Berrin Yüksel‐Konuk

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  1. 1
    Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

    Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia di Mustafa Tekin, Burcu Öztürk Hişmi, Suat Fítöz, Hi̇lal Özdağ, Filiz Başak Cengiz, Aslı Sırmacı, İdil Aslan, Bora İnceoğlu, E. Berrin Yüksel-Konuk, Seda Taşır Yılmaz, Öztan Yasun, Nejat Akar

    Pubblicazione 2007
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    Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

    Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival di Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak, Dirk J. Lefeber, Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Annika Aldinger, Ji-Won Choi, Elise Davis, Dianne Abuelo, Michael S. Adamowicz, Jumana Y. Al‐Aama, Lina Basel‐Vanagaite, Brianna Fernandez, Marie T. Greally, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Emmanuelle Lemyre, Mustafa Tekin, Seval Türkmen, Beyhan Tüysüz, Berrin Yüksel‐Konuk, Stefan Mundlos, Lionel Van Maldergem, Ron A. Wevers, Zsolt Urbán

    Pubblicazione 2009
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