অনুসন্ধান ফলাফলগুলি - Julián Esteve-Rudd
- প্রদর্শন 1 - 7 ফলাফল এর 7
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Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function অনুযায়ী 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
প্রকাশিত 2011Artigo -
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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome অনুযায়ী 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
প্রকাশিত 2014Artigo -
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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina অনুযায়ী 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
প্রকাশিত 2014Artigo -
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ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption অনুযায়ী 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
প্রকাশিত 2013Artigo -
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ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6 অনুযায়ী 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
প্রকাশিত 2013Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Cell biology
Gene
Genetics
Neuroscience
Retina
Biochemistry
Gene knockdown
Medicine
Mutation
Retinal
Zebrafish
Cancer research
Cilium
Endocrinology
Exome sequencing
Internal medicine
Microtubule
Nephrotic syndrome
Retinal degeneration
Retinal pigment epithelium
Anatomy
Bronchiectasis
Bruch's membrane
Centriole
Ciliogenesis
Ciliopathies
Ciliopathy
Docosahexaenoic acid
Fatty acid