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Journal Article
Science, ISSN 0036-8075, 7/2010, Volume 329, Issue 5990, pp. 413 - 417
Journal Article
Journal Article
by Fritsche, Lars G and Igl, Wilmar and Bailey, Jessica N. Cooke and Grassmann, Felix and Sengupta, Sebanti and Bragg-Gresham, Jennifer L and Burdon, Kathryn and Hebbring, Scott J and Wen, Cindy and Gorski, Mathias and Kim, Ivana K and Cho, David and Zack, Donald and Souied, Eric and Scholl, Henik and Bala, Elisa and ELee, Kristine and Hunter, David J and Sardell, Rebecca J and Mitchell, Paul and Merriam, Joanna E and Cipriani, Francesco and Hoffman, Joshua D and Schick, Tina and Lechanteur, Yara T.E and Guymer, Robyn and Johnson, Matthew and Jiang, Yingda and Stanton, Chloe M and Buitendijk, Gabrielle and Zhan, Xiaowei and Kwong, Alan M and Boleda, Alexis and Brooks, Matthew and Gieser, Linn and Ratna Priya, Rinki and Branham, Kari E and Foerster, Johanna R and Heckenlively, John R and Othman, Mohammad I and Vote, Brendan J and Liang, Helena Hai and Souzeau, Emmanuelle and McAllister, Ian L and Isaacs, Timothy and Hall, Janette and Lake, Stewart and Mackey, David A and Constable, Ian J and Craig, Jamie E and Kitchner, Terrie E and Yang, Zhenglin and Su, Zhiguang and Luo, Hongrong and Chen, Daniel and Ouyang, Hong and Flagg, Ken and Lin, Danni and Mao, Guanping and Ferreyra, Henry and Stark, Klaus and Strachwitz, Claudia and Wolf, Armin and Brandl, Caroline and Rudolph, Guenther and Olden, Matthias and Morrison, Margaux A and Morgan, Denise and Schu, Matthew and Ahn, Jeeyun and Silvestri, Giuliana and ETsironi, Evangelia and Park, Kyu Hyung and Farrer, Lindsay and Orlin, Anton and Brucker, Alexander and Li, Mingyao and Curcio, Christine A and Mohand-Sa'd, Saddek and Sahel, José-Alain and Audo, Isabelle and Benchaboune, Mustapha and Cree, Angela and Rennie, Christina A and Goverdhan, Srinivas V and Grunin, Michelle and Hagbi-Levi, Shira and Campochiaro, Peter and Katsanis, Nicholas and Holz, Frank G and Blond, Frédéric and Blanché, Hél'ne and Deleuze, Jean-Fran'ois and Igo Jr., Robert and Truitt, Barbara and Peachey, Neal S and Meuer, Stacy M and Myers, Chelsea E and Moore, Emily L and Klein, Ronald and ...
Nature Genetics, ISSN 1061-4036, 02/2016, Volume 48, Issue 2, pp. 134 - 143
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2016, Volume 24, Issue 12, pp. 1730 - 1738
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 329 - 333
Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod‐cone dystrophy (RCD), the youngest with... 
complex phenotypes | CC2D2A | inherited retinal dystrophy |