研究者
J-GLOBAL ID:201801017208159397   更新日: 2020年06月09日

鈴木 寿人

Hisato Suzuki
論文 (17件):
  • Toshiki Takenouchi, Fan-Yan Wei, Hisato Suzuki, Tomoko Uehara, Takao Takahashi, Yasushi Okazaki, Kenjiro Kosaki, Kazuhito Tomizawa. Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i(6)A37 and ms(2)i(6)A37 modifications in tRNAs from blood and urine samples. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2019. 179. 8. 1609-1614
  • Hisato Suzuki, Toshiki Takenouchi, Tomoko Uehara, Satoshi Takasago, Satoshi Ihara, Hiroshi Yoshihashi, Kenjiro Kosaki. Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. American journal of medical genetics. Part A. 2019. 179. 8. 1628-1630
  • Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Hiroshi Yoshihashi, Hiroshi Suzumura, Seiji Mizuno, Kenjiro Kosaki. SATB2-associated syndrome in patients from Japan: Linguistic profiles. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2019. 179. 6. 896-899
  • Hisato Suzuki, Tomoko Watanabe, Tomoko Uehara, Kenjiro Kosaki. Medical genetics and genomic medicine in Japan. American journal of medical genetics. Part C, Seminars in medical genetics. 2019. 181. 2. 166-169
  • Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura KI, Kondoh T, et al. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. Journal of human genetics. 2019
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MISC (4件):
学位 (1件):
  • 博士(医学) (筑波大学)
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