Kết quả tìm kiếm - Nakayama, Tojo
- Đang hiển thị 1 - 5 kết quả của 5
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Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy Bằng Nakayama, Tojo, Wu, Jiang, Galvin-Parton, Patricia, Weiss, Jody, Andriola, Mary R., Hill, R. Sean, Vaughan, Dylan, El-Quessny, Malak, Barry, Brenda J., Partlow, Jennifer N., Barkovich, A. James, Ling, Jiqiang, Mochida, Ganeshwaran H.
Được phát hành 2017Text -
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Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice Bằng Ogiwara, Ikuo, Miyamoto, Hiroyuki, Tatsukawa, Tetsuya, Yamagata, Tetsushi, Nakayama, Tojo, Atapour, Nafiseh, Miura, Eriko, Mazaki, Emi, Ernst, Sara J., Cao, Dezhi, Ohtani, Hideyuki, Itohara, Shigeyoshi, Yanagawa, Yuchio, Montal, Mauricio, Yuzaki, Michisuke, Inoue, Yushi, Hensch, Takao K., Noebels, Jeffrey L., Yamakawa, Kazuhiro
Được phát hành 2018Text -
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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination Bằng Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.
Được phát hành 2015Text -
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Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features Bằng Ouyang, Qing, Nakayama, Tojo, Baytas, Ozan, Davidson, Shawn M., Yang, Chendong, Schmidt, Michael, Lizarraga, Sofia B., Mishra, Sasmita, EI-Quessny, Malak, Niaz, Saima, Gul Butt, Mirrat, Imran Murtaza, Syed, Javed, Afzal, Chaudhry, Haroon Rashid, Vaughan, Dylan J., Hill, R. Sean, Partlow, Jennifer N., Yoo, Seung-Yun, Lam, Anh-Thu N., Nasir, Ramzi, Al-Saffar, Muna, Barkovich, A. James, Schwede, Matthew, Nagpal, Shailender, Rajab, Anna, DeBerardinis, Ralph J., Housman, David E., Mochida, Ganeshwaran H., Morrow, Eric M.
Được phát hành 2016Text