检索结果 - Feldman, Benjamin
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OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria 由 Huizing, Marjan, Dorward, Heidi, Ly, Lien, Klootwijk, Enriko, Kleta, Robert, Skovby, Flemming, Pei, Wuhong, Feldman, Benjamin, Gahl, William A., Anikster, Yair
出版 2010Text -
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The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish 由 Trivellin, Giampaolo, Tirosh, Amit, Hernández-Ramírez, Laura C., Gupta, Tripti, Tsai-Morris, Chon Hwa, Faucz, Fabio R., Burgess, Harold A., Feldman, Benjamin, Stratakis, Constantine A.
出版 2021Text -
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SUN-038 Role Of The Satb 1 Gene In Growth Across Species: Findings In A Cohort Of Patients With Short Stature And In A Knockout Zebrafish Model 由 Gutierrez Maria, Andrea, Hernandez-Ramirez, Laura, Trivellin, Giampaolo, Chasseloup, Fanny, Dionysiou, Margarita, Vasques, Gabriela, Feldman, Benjamin, Tsai-Morris, Chon-Hwa, Faucz, Fabio, Jorge, Alexander, Stratakis, Constantine
出版 2019Text -
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A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3 由 Pei, Wuhong, Kratz, Lisa E., Bernardini, Isa, Sood, Raman, Yokogawa, Tohei, Dorward, Heidi, Ciccone, Carla, Kelley, Richard I., Anikster, Yair, Burgess, Harold A., Huizing, Marjan, Feldman, Benjamin
出版 2010Text -
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Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly 由 Roessler, Erich, Ouspenskaia, Maia V., Karkera, Jayaprakash D., Vélez, Jorge I., Kantipong, Amy, Lacbawan, Felicitas, Bowers, Peter, Belmont, John W., Towbin, Jeffrey A., Goldmuntz, Elizabeth, Feldman, Benjamin, Muenke, Maximilian
出版 2008Text -
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Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly 由 Roessler, Erich, Hu, Ping, Hong, Sung-Kook, Srivastava, Kshitij, Carrington, Blake, Sood, Raman, Petrykowska, Hanna, Elnitski, Laura, Ribeiro, Lucilene A., Richieri-Costa, Antonio, Feldman, Benjamin, Odenwald, Ward F., Muenke, Maximilian
出版 2012Text -
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Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds 由 Tseng, Wei-Chia, Loeb, Hannah E., Pei, Wuhong, Tsai-Morris, Chon-Hwa, Xu, Lisha, Cluzeau, Celine V., Wassif, Christopher A., Feldman, Benjamin, Burgess, Shawn M., Pavan, William J., Porter, Forbes D.
出版 2018Text -
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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly 由 Roessler, Erich, Pei, Wuhong, Ouspenskaia, Maia V., Karkera, Jayaprakash D., Veléz, Jorge Ivan, Banerjee-Basu, Sharmilla, Gibney, Gretchen, Lupo, Philip J., Mitchell, Laura E., Towbin, Jeffrey A., Bowers, Peter, Belmont, John W., Goldmuntz, Elizabeth, Baxevanis, Andreas D., Feldman, Benjamin, Muenke, Maximilian
出版 2009Text -
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Characterization of GPR101 transcript structure and expression patterns 由 Trivellin, Giampaolo, Bjelobaba, Ivana, Daly, Adrian F., Larco, Darwin O., Palmeira, Leonor, Faucz, Fabio R., Thiry, Albert, Leal, Letícia F., Rostomyan, Liliya, Quezado, Martha, Schernthaner-Reiter, Marie Helene, Janjic, Marija M., Villa, Chiara, Wu, T. John, Stojilkovic, Stanko S., Beckers, Albert, Feldman, Benjamin, Stratakis, Constantine A.
出版 2016Text