检索结果 - Julián Esteve-Rudd

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  1. 1
    A Comparison of Some Organizational Characteristics of the Mouse Central Retina and the Human Macula

    A Comparison of Some Organizational Characteristics of the Mouse Central Retina and the Human Macula 由 Stefanie Volland, Julián Esteve-Rudd, Juyea Hoo, Claudine Yee, David S. Williams

    出版 2015
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  2. 2
    Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis

    Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis 由 Mei Jiang, Julián Esteve-Rudd, Vanda S. Lopes, Tanja Diemer, Concepción Lillo, Agrani Rump, David S. Williams

    出版 2015
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  3. 3
    Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function

    Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function 由 Richard Harkewicz, Hongjun Du, Zongzhong Tong, Hisham Alkuraya, Matthew Bedell, Woong Sun, Xiaolei Wang, Yuan-Hao Hsu, Julián Esteve-Rudd, Guy Hughes, Zhiguang Su, Ming Zhang, Vanda S. Lopes, Robert S. Molday, David S. Williams, Edward A. Dennis, Kang Zhang

    出版 2011
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  4. 4
    Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

    Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome 由 Heon Yung Gee, Shazia Ashraf, Xiaoyang Wan, Virginia Vega-Warner, Julián Esteve-Rudd, Svjetlana Lovric, Humphrey Fang, Toby W. Hurd, Carolin E. Sadowski, Susan J. Allen, Edgar A. Otto, Emine Korkmaz, Joseph Washburn, Shawn Levy, David S. Williams, Sevcan A. Bakkaloğlu, Anna Zolotnitskaya, Fatih Özaltın, Weibin Zhou, Friedhelm Hildebrandt

    出版 2014
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  5. 5
    Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

    Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina 由 Aiden Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, Julián Esteve-Rudd, Hua Zhong, Stef J.F. Letteboer, Jeroen van Reeuwijk, David L. Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia E. C. van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M. Wu, David S. Williams, Graeme Mardon, Ronald Roepman, Rui Chen

    出版 2014
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  6. 6
    ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

    ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption 由 Shazia Ashraf, Heon Yung Gee, Stéphanie Woerner, Letian Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C. Cattran, Carmen Ávila-Casado, Andrew D. Paterson, Patrick Nitschké, Christine Bôle‐Feysot, Pierre Cochat, Julián Esteve-Rudd, Birgit Haberberger, Susan J. Allen, Weibin Zhou, Rannar Airik, Edgar A. Otto, Moumita Barua, Mohamed H. Al‐Hamed, Jameela A. Kari, Jonathan Evans, Agnieszka Bierżyńska, Moin A. Saleem, Detlef Böckenhauer, Robert Kleta, Sherif El Desoky, Duygu Övünç Hacıhamdioğlu, Faysal Gök, Joseph Washburn, Roger C. Wiggins, Murim Choi, Richard P. Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, David S. Williams, Martin R. Pollak, Catherine F. Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt

    出版 2013
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  7. 7
    ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

    ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6 由 Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A. Al-Mutairi, Margaret W. Leigh, Toby W. Hurd, Rim Hjeij, Sharon Dell, Moumita Chaki, Gerard W. Dougherty, Mohamed Adan, Philip C. Spear, Julián Esteve-Rudd, Niki T. Loges, Margaret Rosenfeld, Katrina A. Diaz, Heike Olbrich, Whitney Wolf, Eamonn Sheridan, Trevor F.C. Batten, Jan Halbritter, Jonathan D. Porath, Stefan Kohl, Svjetlana Lovric, Daw‐Yang Hwang, Jessica E. Pittman, Kimberlie A. Burns, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Lucy Morgan, Claudius Werner, Johanna Raidt, Petra Pennekamp, Zhaoxia Sun, Weibin Zhou, Rannar Airik, S. Natarajan, Susan J. Allen, Israel Amirav, Dagmar Wieczorek, Kerstin Landwehr, Kim G. Nielsen, Nicolaus Schwerk, Jadranka Sertić, Gabriele Köhler, Joseph Washburn, Shawn Levy, Shuling Fan, Cordula Koerner‐Rettberg, Serge Amselem, David S. Williams, Brian J. Mitchell, Iain A. Drummond, Edgar A. Otto, Heymut Omran, Michael R. Knowles, Friedhelm Hildebrandt

    出版 2013
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