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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. RHOA-associated disorder can be non-mosaic Nakato, Daisuke; Morisada, Naoya; Iwatani, Sota; Nishida, Chikako (+5 著者) Takenouchi, Toshiki
      European journal of medical genetics 75: (2025)
  2. 2. Effective calcineurin inhibitor treatment in adult-onset steroid-resistant nephrotic syndrome with a novel splice donor site variant of TRPC6: a case report Nagasaka, Tomoki; Uchiyama, Kiyotaka; Hama; Eriko Yoshida (+13 著者) Itoh, Hiroshi
      CEN case reports 14: 208 (2025)
  3. 3. 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)
  4. 4. Brain calcification in congenital heart defects and ectodermal dysplasia (CHDED) Watanabe, Daisuke; Hasebe, Yohei; Yagasaki, Hideaki; Nakato, Daisuke (+9 著者) Kosaki, Kenjiro
      European journal of medical genetics 73: (2025)
  5. 5. Wieacker-Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report Kobayashi, Satoko; Sato, Ayami; Chiba, Yumiko; Adachi, Natsuho (+4 著者) Tanaka, Hiroyuki
      Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 34: 70 (2025)
  6. 6. 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
  7. 7. Nine years study of Initiative on Rare and Undiagnosed Diseases (IRUD) study in Osaka Women's and Children's Hospital Okamoto, Nobuhiko; Nishi, Eriko; Hasegawa, Yuiko; Yanagi, Kumiko (+5 著者) Kosaki, Kenjiro
      EUROPEAN JOURNAL OF HUMAN GENETICS 32: 1593 (2024)
  8. 8. Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure Saito, Koji; Fujimoto, Minoru; Funajima, Eiji; Serada, Satoshi (+7 著者) Naka, Tetsuji
      The journal of allergy and clinical immunology. Global 3: (2024)
  9. 9. The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up Kaji, Masanori; Namkoong, Ho; Chubachi, Shotaro; Tanaka, Hiromu (+12 著者) Fukunaga, Koichi
      BMC pulmonary medicine 24: 481 (2024)
  10. 10. 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
  11. 11. 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
  12. 12. 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)
  13. 13. 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
  14. 14. 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
  15. 15. 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)
  16. 16. 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
  17. 17. 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
  18. 18. 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)
  19. 19. 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)
  20. 20. 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)
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