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收藏分享 收藏 Establishment of a zebrafish inbred strain, M-AB, capable of regular breeding and genetic manipulation
Sadamitsu, Kenichiro; Velilla, Fabien; Shinya, Minori; Kashima, Makoto; Imai, Yukiko; Kawasaki, Toshihiro; Watai, Kenta; Hosaka, Miho; Hirata, Hiromi; Sakai, Noriyoshi 分享 收藏 Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1Takeuchi, Ichiro; Tanase-Nakao, Kanako; Ogawa, Ayame; Sugawara, Tohru; Migita, Osuke; Kashima, Makoto; Yamazaki, Touko; Iguchi, Akihiro; Naiki, Yasuhiro; Uchiyama, Toru; Tamaoki, Junya; Maeda, Hiroki; Shimizu, Hirotaka; Kawai, Toshinao; Taniguchi, Kosuke; Hirata, Hiromi; Kobayashi, Makoto; Matsumoto, Kimikazu; Naruse, Kiyoshi; Hata, Kenichiro; Akutsu, Hidenori; Kato, Takashi; Narumi, Satoshi; Arai, Katsuhiro; Ishiguro, Akira 分享 收藏 分享 收藏 分享 收藏 MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaReid, Kimberley M.; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M.; Papandreou, Apostolos; Simpson, Michael A.; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B.; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R.; Scott, Richard H.; Vandenberg, Robert J.; Raymond, F. Lucy; Chong, Wui K.; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E.; Campeau, Philippe M.; Harvey, Robert J.; Kurian, Manju A. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Glycine ReceptorAutoantibodies Impair Receptor Function and Induce Motor DysfunctionRauschenberger, Vera; von Wardenburg, Niels; Schaefer, Natascha; Ogino, Kazutoyo; Hirata, Hiromi; Lillesaar, Christina; Kluck, Christoph J.; Meinck, Hans-Michael; Borrmann, Marc; Weishaupt, Andreas; Doppler, Kathrin; Wickel, Jonathan; Geis, Christian; Sommer, Claudia; Villmann, Carmen 分享 收藏 分享 收藏 分享 收藏 Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaFrints, Suzanna G. M.; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H.; Hunt, David; Mendelsohn, Bryce A.; Kordass, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernandez-Jaen, Alberto; van Roozendaal, Kees; Stevens, Servi J. C.; Macville, Merryn V. E.; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M.; McGregor, Lesley; Maas, Saskia M.; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S.; Engle, Elizabeth C.; Houge, Gunnar; Gradek, Gyri A.; Douglas, Andrew G. L.; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C.; Hirata, Hiromi; Kalscheuer, Vera M. 分享 收藏 Rap1b Promotes Notch-Signal-Mediated Hematopoietic Stem Cell Development by Enhancing Integrin-Mediated Cell AdhesionRho, Seung-Sik; Kobayashi, Isao; Oguri-Nakamura, Eri; Ando, Koji; Fujiwara, Masakazu; Kamimura, Naomi; Hirata, Hiromi; Iida, Atsuo; Iwai, Yoshiko; Mochizuki, Naoki; Fukuhara, Shigetomo 分享 收藏 分享 收藏 分享 收藏 Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor a 1 Subunits in the Shaky Mouse Model of Startle DiseaseSchaefer, Natascha; Zheng, Fang; van Brederode, Johannes; Berger, Alexandra; Leacock, Sophie; Hirata, Hiromi; Paige, Christopher J.; Harvey, Robert J.; Alzheimer, Christian; Villmann, Carmen 分享 收藏 Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin TransportBoubakri, Meriam; Chaya, Taro; Hirata, Hiromi; Kajimura, Naoko; Kuwahara, Ryusuke; Ueno, Akiko; Malicki, Jarema; Furukawa, Takahisa; Omori, Yoshihiro 分享 收藏 
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