نتائج البحث - Nobuya Takahashi
- يعرض 1 - 2 نتائج من 2
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1
De novo <i><scp>KCNT</scp>1</i> mutations in early‐onset epileptic encephalopathy حسب Chihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, Hitoshi Osaka, Takashi Shiihara, Jun Tohyama, Shin Nabatame, Junji Azuma, Yuji Fujii, Munetsugu Hara, Reimi Tsurusawa, Takahito Inoue, Reina Ogata, Yoriko Watanabe, Noriko Togashi, Hirofumi Kodera, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto
منشور في 2015Artigo -
2
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome حسب Ai Unzaki, Naoya Morisada, Kandai Nozu, Ming Juan Ye, Shuichi Ito, Tatsuo Matsunaga, Kenji Ishikura, Shihomi Ina, Koji Nagatani, Takayuki Okamoto, Yuji Inaba, Naoko Ito, Toru Igarashi, Shoichiro Kanda, Ken Ito, Kohei Omune, Takuma Iwaki, Kazuyuki Ueno, Mayumi Yahata, Yasufumi Ohtsuka, Eriko Nishi, Nobuya Takahashi, Tomoaki Ishikawa, Shunsuke Goto, Nobuhiko Okamoto, Kazumoto Iijima
منشور في 2018Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Medicine
Audiology
Bioinformatics
Comparative genomic hybridization
Copy-number variation
Epilepsy
Epileptic spasms
Exome sequencing
Exon
Genome
Genotype-phenotype distinction
Hearing loss
Kidney
Multiplex ligation-dependent probe amplification
Mutation
Neuroscience
Pediatrics
Phenotype
Renal agenesis
West Syndrome