Ngā hua rapu kaituhi :: APM

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Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype mā Stephen H. Tsang, Tomas R. Burke, Maris Oll, Suzanne Yzer, Winston Lee, Ya‐Jing Xie, Rando Allikmets

I whakaputaina 2014

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2

Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy mā Carl Schubert, Anders Pryds, Shemin Zeng, Ya‐Jing Xie, K. Bailey Freund, Richard F. Spaide, John C. Merriam, Irene Barbazetto, Jason S. Slakter, Stanley Chang, Inger Christine Munch, Arlene V. Drack, Jasmine Hernández, Suzanne Yzer, Joanna E. Merriam, Allan Linneberg, Michael Larsen, Lawrence A. Yannuzzi, Robert F. Mullins, Rando Allikmets

I whakaputaina 2014

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Artigo

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3

Analysis of the ABCA4 genomic locus in Stargardt disease mā Jana Zernant, Ya‐Jing Xie, Carmen Ayuso, Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Francesca Simonelli, Francesco Testa, Michael B. Gorin, Samuel P. Strom, Mette Bertelsen, Thomas Rosenberg, Philip M. Boone, Bo Yuan, Radha Ayyagari, Péter L. Nagy, Stephen H. Tsang, Peter Gouras, Frederick T. Collison, James R. Lupski, Gerald A. Fishman, Rando Allikmets

I whakaputaina 2014

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Artigo

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4

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases mā Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng, Tomasz Gambin, Ender Karaca, Ghayda Mirzaa, Wojciech Wiszniewski, Héctor Sandoval, Nele A. Haelterman, Bo Xiong, Ke Zhang, Vafa Bayat, Gabriela David, Tongchao Li, Kuchuan Chen, Upasana Gala, Tamar Harel, Davut Pehli̇van, Samantha Penney, Lisenka E.L.M. Vissers, Joep de Ligt, Shalini N. Jhangiani, Ya‐Jing Xie, Stephen H. Tsang, Yeşim Parman, Merve Sivaci, Esra Battaloğlu, Donna M. Muzny, Ying-Wooi Wan, Zhandong Liu, Alexander T. Lin-Moore, Robin D. Clark, Cynthia J. Curry, Nichole Link, Karen L. Schulze, Eric Boerwinkle, William B. Dobyns, Rando Allikmets, Richard A. Gibbs, Rui Chen, James R. Lupski, Michael F. Wangler, Hugo J. Bellen

I whakaputaina 2014

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5

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies mā Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Álvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel Ángel López-Martínez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda‐Sánchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bôle‐Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Emma Lord, Andrea H. Németh, Stephanie Halford, Susan M. Downes, Jing Yu

I whakaputaina 2017

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