未登录 Regulation of Androgen Receptor-Mediated Transcription by RPB5 Binding Protein URI/RMP Mita, Paolo; Savas, Jeffrey N.; Djouder, Nabil; Yates, John R., III; Ha, Susan; Ruoff, Rachel; Schafler, Eric D.; Nwachukwu, Jerome C.; Tanese, Naoko; Cowan, Nicholas J.; Zavadil, Jiri; Garabedian, Michael J.; Logan, Susan K. 分享 收藏
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Tripathy, Ratna; Leca, Ines; van Dijk, Tessa; Weiss, Janneke; van Bon, Bregje W.; Sergaki, Maria Christina; Gstrein, Thomas; Breuss, Martin; Tian, Guoling; Bahi-Buisson, Nadia; Paciorkowski, Alexander R.; Pagnamenta, Alistair T.; Wenninger-Weinzierl, Andrea; Martinez-Reza, Maria Fernanda; Landler, Lukas; Lise, Stefano; Taylor, Jenny C.; Terrone, Gaetano; Vitiello, Giuseppina; Del Giudice, Ennio; Brunetti-Pierri, Nicola; D'Amico, Alessandra; Reymond, Alexandre; Voisin, Norine; Bernstein, Jonathan A.; Farrelly, Ellyn; Kini, Usha; Leonard, Thomas A.; Valence, Stephanie; Burglen, Lydie; Armstrong, Linlea; Hiatt, Susan M.; Cooper, Gregory M.; Aldinger, Kimberly A.; Dobyns, William B.; Mirzaa, Ghayda; Pierson, Tyler Mark; Baas, Frank; Chelly, Jamel; Cowan, Nicholas J.; Keays, David Anthony 分享 收藏
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease Luscan, Romain; Mechaussier, Sabrina; Paul, Antoine; Tian, Guoling; Gerard, Xavier; Defoort-Dellhemmes, Sabine; Loundon, Natalie; Audo, Isabelle; Bonnin, Sophie; LeGargasson, Jean-Francois; Dumont, Julien; Goudin, Nicolas; Garfa-Traore, Meriem; Bras, Marc; Pouliet, Aurore; Bessieres, Bettina; Boddaert, Nathalie; Sahel, Jose-Alain; Lyonnet, Stanislas; Kaplan, Josseline; Cowan, Nicholas J.; Rozet, Jean-Michel; Marlin, Sandrine; Perrault, Isabelle 分享 收藏
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability Breuss, Martin W.; Thai Nguyen; Srivatsan, Anjana; Leca, Ines; Tian, Guoling; Fritz, Tanja; Hansen, Andi H.; Musaev, Damir; McEvoy-Venneri, Jennifer; James, Kiely N.; Rosti, Rasim O.; Scott, Eric; Tan, Uner; Kolodner, Richard D.; Cowan, Nicholas J.; Keays, David A.; Gleeson, Joseph G. 分享 收藏
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway Edvardson, Shimon; Tian, Guoling; Cullen, Hayley; Vanyai, Hannah; Ngo, Linh; Bhat, Saiuj; Aran, Adi; Daana, Muhannad; Da'amseh, Naderah; Abu-Libdeh, Bassam; Cowan, Nicholas J.; Heng, Julian Ik-Tsen; Elpeleg, Orly 分享 收藏
Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos TUBB8中的突变导致人类卵母细胞和早期胚胎中的多种表型 Feng, Ruizhi; Yan, Zheng; Li, Bin; Yu, Min; Sang, Qing; Tian, Guoling; Xu, Yao; Chen, Biaobang; Qu, Ronggui; Sun, Zhaogui; Sun, Xiaoxi; Jin, Li; He, Lin; Kuang, Yanping; Cowan, Nicholas J.; Wang, Lei 分享 收藏
Mutations in TUBB8 and Human Oocyte Meiotic Arrest Feng, Ruizhi; Sang, Qing; Kuang, Yanping; Sun, Xiaoxi; Yan, Zheng; Zhang, Shaozhen; Shi, Juanzi; Tian, Guoling; Luchniak, Anna; Fukuda, Yusuke; Li, Bin; Yu, Min; Chen, Junling; Xu, Yao; Guo, Luo; Qu, Ronggui; Wang, Xueqian; Sun, Zhaogui; Liu, Miao; Shi, Huijuan; Wang, Hongyan; Feng, Yi; Shao, Ruijin; Chai, Renjie; Li, Qiaoli; Xing, Qinghe; Zhang, Rui; Nogales, Eva; Jin, Li; He, Lin; Gupta, Mohan L., Jr.; Cowan, Nicholas J.; Wang, Lei 分享 收藏
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type Isrie, Mala; Breuss, Martin; Tian, Guoling; Hansen, Andi Harley; Cristofoli, Francesca; Morandell, Jasmin; Kupchinsky, Zachari A.; Sifrim, Alejandro; Maria Rodriguez-Rodriguez, Celia; Porta Dapena, Elena; Doonanco, Kurston; Leonard, Norma; Tinsa, Faten; Moortgat, Stephanie; Ulucan, Hakan; Koparir, Erkan; Karaca, Ender; Katsanis, Nicholas; Marton, Valeria; Vermeesch, Joris Robert; Davis, Erica E.; Cowan, Nicholas J.; Keays, David Anthony; Van Esch, Hilde 分享 收藏
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly (vol 45, pg 639, 2013) Poirier, Karine; Lebrun, Nicolas; Broix, Loic; Tian, Guoling; Saillour, Yoann; Boscheron, Cecile; Parrini, Elena; Valence, Stephanie; Saint Pierre, Benjamin; Oger, Madison; Lacombe, Didier; Genevieve, David; Fontana, Elena; Darra, Franscesca; Cances, Claude; Barth, Magalie; Bonneau, Dominique; Bernadina, Bernardo Dalla; N'Guyen, Sylvie; Gitiaux, Cyril; Parent, Philippe; Portes, Vincent des; Pedespan, Jean Michel; Legrez, Victoire; Castelnau-Ptakine, Laetitia; Nitschke, Patrick; Hieu, Thierry; Masson, Cecile; Zelenika, Diana; Andrieux, Annie; Francis, Fiona; Guerrini, Renzo; Cowan, Nicholas J.; Bahi-Buisson, Nadia; Chelly, Jamel 分享 收藏
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Poirier, Karine; Lebrun, Nicolas; Broix, Loic; Tian, Guoling; Saillour, Yoann; Boscheron, Cecile; Parrini, Elena; Valence, Stephanie; Saint Pierre, Benjamin; Oger, Madison; Lacombe, Didier; Genevieve, David; Fontana, Elena; Darra, Franscesca; Cances, Claude; Barth, Magalie; Bonneau, Dominique; Dalla Bernadina, Bernardo; N'Guyen, Sylvie; Gitiaux, Cyril; Parent, Philippe; Portes, Vincent des; Pedespan, Jean Michel; Legrez, Victoire; Castelnau-Ptakine, Laetitia; Nitschke, Patrick; Hieu, Thierry; Masson, Cecile; Zelenika, Diana; Andrieux, Annie; Francis, Fiona; Guerrini, Renzo; Cowan, Nicholas J.; Bahi-Buisson, Nadia; Chelly, Jamel 分享 收藏
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities Breuss, Martin; Heng, Julian Ik-Tsen; Poirier, Karine; Tian, Guoling; Jaglin, Xavier Hubert; Qu, Zhengdong; Braun, Andreas; Gstrein, Thomas; Ngo, Linh; Haas, Matilda; Bahi-Buisson, Nadia; Moutard, Marie-Laure; Passemard, Sandrine; Verloes, Alain; Gressens, Pierre; Xie, Yunli; Robson, Kathryn J. H.; Rani, Deepa Selvi; Thangaraj, Kumarasamy; Clausen, Tim; Chelly, Jamel; Cowan, Nicholas Justin; Keays, David Anthony 分享 收藏
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