检索结果 - Lark, Robert
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases 由 Pena, Loren DM, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Horn, Sarah Rapisardo, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Ann Keels, Martha, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel SG, del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana
出版 2017Text -
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IRF2BPL Is Associated with Neurological Phenotypes 由 Marcogliese, Paul C., Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Yamamoto, Shinya, Wangler, Michael F., Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J., Pena, Loren D.M.
出版 2018Text -
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IRF2BPL Is Associated with Neurological Phenotypes 由 Marcogliese, Paul C., Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Graham, John M., Ortiz, Damara, Infante, Elena, Steyaert, Wouter, Dermaut, Bart, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Yang, Yaping, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Yamamoto, Shinya, Wangler, Michael F., Mirzaa, Ghayda, Hemelsoet, Dimitri, Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J., Pena, Loren D.M.
出版 2018Text