检索结果 - Network, Undiagnosed Diseases

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  1. 1
    De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

    De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment 由 Dutta, Debdeep, Briere, Lauren C, Kanca, Oguz, Marcogliese, Paul C, Walker, Melissa A, High, Frances A, Vanderver, Adeline, Krier, Joel, Carmichael, Nikkola, Callahan, Christine, Taft, Ryan J, Simons, Cas, Helman, Guy, Network, Undiagnosed Diseases, Wangler, Michael F, Yamamoto, Shinya, Sweetser, David A, Bellen, Hugo J

    出版 2020
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  2. 2
    Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

    Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling 由 Marcogliese, Paul C., Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi D. P., Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A., Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D., Network, Undiagnosed Diseases, Pena, Loren D. M., Yamamoto, Shinya, Nelson, Stanley F., Might, Matthew, Meyer, Kathrin C., Yeo, Nan Cher, Bellen, Hugo J.

    出版 2022
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    Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

    Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome 由 Béziat, Vivien, Tavernier, Simon J., Chen, Yin-Huai, Ma, Cindy S., Materna, Marie, Laurence, Arian, Staal, Jens, Aschenbrenner, Dominik, Roels, Lisa, Worley, Lisa, Claes, Kathleen, Gartner, Lisa, Kohn, Lisa A., De Bruyne, Marieke, Schmitz-Abe, Klaus, Charbonnier, Louis-Marie, Keles, Sevgi, Nammour, Justine, Vladikine, Natasha, Luxman Maglorius Renkilaraj, Majistor Raj, Seeleuthner, Yoann, Migaud, Mélanie, Rosain, Jérémie, Jeljeli, Mohamed, Boisson, Bertrand, Van Braeckel, Eva, Rosenfeld, Jill A., Dai, Hongzheng, Burrage, Lindsay C., Murdock, David R., Lambrecht, Bart N., Avettand-Fenoel, Véronique, Vogel, Tiphanie P., Network, Undiagnosed Diseases, Esther, Charles R., Haskologlu, Sule, Dogu, Figen, Ciznar, Peter, Boutboul, David, Ouachée-Chardin, Marie, Amourette, Jean, Lebras, Marie-Noëlle, Gauvain, Clément, Tcherakian, Colas, Ikinciogullari, Aydan, Beyaert, Rudi, Abel, Laurent, Milner, Joshua D., Grimbacher, Bodo, Couderc, Louis-Jean, Butte, Manish J., Freeman, Alexandra F., Catherinot, Émilie, Fieschi, Claire, Chatila, Talal A., Tangye, Stuart G., Uhlig, Holm H., Haerynck, Filomeen, Casanova, Jean-Laurent, Puel, Anne

    出版 2020
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