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鈴木 寿人

Suzuki, Hisato

医学医療系 , 准教授
Faculty of Medicine , Associate Professor

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  1. 1. Case-based learning: a case of maturity-onset diabetes of the young 5 (MODY5) due to 17q12 microdeletion with a diminished plasma glucagon level Sugano, Yoko; Sekiya, Motohiro; Murayama, Yuki; Osaki, Yoshinori (+5 著者) Shimano, Hitoshi
      DIABETOLOGY INTERNATIONAL Epub: (2025)
  2. 2. De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model Daisuke Nakato; Yuri Yasue; Kohei Matsubara; Hisato Suzuki (+5 著者) Kenjiro Kosaki
      European Journal of Medical Genetics 72: 104983 (2024) Semantic Scholar
  3. 3. A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever Yamada, Saeko; Nagafuchi, Yasuo; Yamada, Mamiko; Suzuki, Hisato (+9 著者) Fujio, Keishi
      FRONTIERS IN IMMUNOLOGY 15: (2024) Semantic Scholar
  4. 4. Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases. Yu Kanai; Hironori Takahashi; Fuyuki Hasegawa; Asuka Mori (+8 著者) Kenichiro Hata
      American journal of medical genetics. Part A e63884 (2024) Semantic Scholar
  5. 5. 生後1ヵ月でけいれん群発・重積で発症したXXX症候群の一例 中村 拓自; 樋口 直弥; 實藤 雅文; 鈴木 寿人 (+1 著者) 松尾 宗明
      てんかん研究 42: 574 (2024)
  6. 6. Digital clubbing without hypoxia for lysinuric protein intolerance. Daisuke Watanabe; Yuko Tsujioka; Daisuke Nakato; Mamiko Yamada (+7 著者) Kenjiro Kosaki
      European journal of medical genetics 104967 (2024) Semantic Scholar
  7. 7. Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis Watanabe, Daisuke; Okamoto, Nobuhiko; Kobayashi, Yuichi; Suzuki, Hisato (+9 著者) Miya, Fuyuki
      Scientific reports 14: (2024) Semantic Scholar
  8. 8. 先天性中枢性低換気症候群を疑う新生児例に対する全エクソーム解析の有用性 中藤 大輔; 渡邊 大輔; 山田 茉未子; 鈴木 寿人 (+1 著者) 小崎 健次郎
      日本小児呼吸器学会雑誌 35: 106 (2024)
  9. 9. Forebrain commissure formation in zebrafish embryo requires the binding of KLC1 to CRMP2 Li, Simo; Guo, Youjia; Takahashi, Miyuki; Suzuki, Hisato (+1 著者) Ohshima, Toshio
      Developmental neurobiology 84: 203 (2024) Semantic Scholar
  10. 10. Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s) Suzuki, Hisato; Muramatsu, Yukako; Miya, Fuyuki; Asada, Hideyuki (+3 著者) Takenouchi, Toshiki
      European journal of medical genetics 70: (2024) Semantic Scholar
  11. 11. 近位関節の拘縮で発症したMalan症候群 野村 俊介; 川崎 裕香子; 長岡 貢秀; 猪又 智実 (+7 著者) 吉田 丈俊
      脳と発達 56: S262 (2024)
  12. 12. Tubulin folding Co-factor D(TBCD)遺伝子変異によると考えられた早期発症神経変性脳症の一例 短田 浩一; 近藤 秀仁; 西村 陽; 吉田 健司 (+6 著者) 小崎 健次郎
      脳と発達 56: S266 (2024)
  13. 13. 先天性ネフローゼや進行性の脳石灰化を呈するSCN8A遺伝子異常の男児例 花岡 義行; 千葉 優子; 國澤 久路; 大金 佑輔 (+8 著者) 脇 研自
      脳と発達 56: S263 (2024)
  14. 14. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. Mamiko Yamada; Seiji Mizuno; Mie Inaba; Tomoko Uehara (+5 著者) Kenjiro Kosaki
      American journal of medical genetics. Part A e63614 (2024) Semantic Scholar
  15. 15. A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome Takahashi, Ikuko; Noguchi, Atsuko; Kondo, Daiki; Sato, Yoko (+3 著者) Takahashi, Tsutomu
      Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33: 39 (2024) Semantic Scholar
  16. 16. 兵庫県立こども病院での「BIRTHDAY project/Priority-i)」(重症新生児に対する網羅的遺伝子解析研究)の成果 森貞 直哉; 洪本 加奈; 中岸 保夫; 芳本 誠司 (+3 著者) 小崎 健次郎
      日本小児科学会雑誌 128: 623 (2024)
  17. 17. Gut microbiota of one-and-a-half-year-old food-allergic and healthy children Hara, Monami; Suzuki, Hisato; Hayashi, Daisuke; Morii, Wataru (+5 著者) Takada, Hidetoshi
      Allergology international : official journal of the Japanese Society of Allergology 73: 550 (2024)
  18. 18. Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis Saito, Sonoko; Saito, Yuki; Sato, Showbu; Aoki, Satomi (+14 著者) Kubo, Akiharu
      The American Journal of Human Genetics (2024)
  19. 19. 自閉スペクトラム症と知的障害,特徴的な乳歯の早期萠出を認めたADNP症候群の1例 山下 朋代; 田中 裕子; 三輪谷 隆史; 岡本 伸彦 (+4 著者) 西垣 敏紀
      脳と発達 56: 142 (2024)
  20. 20. Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration Yamada, Mamiko; Maeta, Kazuhiro; Suzuki, Hisato; Kurosawa, Ryo (+8 著者) Kosaki, Kenjiro
      Scientific reports 14: 6506 (2024) Semantic Scholar
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