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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. Early genetic diagnosis of glutathione synthetase deficiency with pathogenic variants in glutathione synthetase gene: A case report Nemoto, Hiroki; Hitaka, Daisuke; Imagawa, Kazuo; Okada, Yuki (+9 著者) Takada, Hidetoshi
      PEDIATRICS AND NEONATOLOGY 67: 221 (2026) Semantic Scholar
  2. 2. 筑波大学附属病院におけるIRUDの取り組みについて 福島 紘子; 右田 王介; 今川 和生; 榎園 崇 (+7 著者) 高田 英俊
      日本小児科学会雑誌 130: 78 (2026)
  3. 3. Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report Kajikawa, Daigo; Miura-Fuchino, Rena; Hinata, Ayako; Hoshino, Yusuke (+5 著者) Takenouchi, Toshiki
      NEONATOLOGY (2025) Semantic Scholar
  4. 4. ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape Tanaka, Yuya; Yamada, Mamiko; Miya, Fuyuki; Otani, Toshimitsu (+5 著者) Kosaki, Kenjiro
      EUROPEAN JOURNAL OF MEDICAL GENETICS 78: (2025) Semantic Scholar
  5. 5. De novo C3 Glomerulonephritis in a Kidney Transplant Recipient Associated With a Rare CFH Variant of Unknown Significance Takahashi-Kobayashi, Mayumi; Sawai, Toshihiro; Nagano, China; Kawanishi, Kunio (+3 著者) Usui, Joichi
      KIDNEY INTERNATIONAL REPORTS 10: 4094 (2025) Semantic Scholar
  6. 6. Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis Iwai, Maki; Stuurman, Kyra E.; Meagher, Kirsten; Leveille, Lise A. (+10 著者) Nishimura, Gen
      European journal of human genetics : EJHG (2025) Semantic Scholar
  7. 7. Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant Tanaka, Yuya; Ikenoue, Satoru; Ueno, Akihisa; Masugi, Yohei (+6 著者) Tanaka, Mamoru
      European journal of medical genetics 77: (2025) Semantic Scholar
  8. 8. Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond. Fuyuki Miya; Daisuke Nakato; Hisato Suzuki; Mamiko Yamada (+2 著者) Kenjiro Kosaki
      Journal of human genetics (2025) Semantic Scholar
  9. 9. Incidental diagnosis of Fabry disease by detecting mulberry bodies in a Bangladeshi male with infertility and residing in Japan: a case report highlighting clinical and economic challenges Kojo, Kosuke; Mase, Kaori; Suzuki, Hisato; Arita, Miwa (+2 著者) Kawasaki, Akiko
      Journal of rural medicine : JRM 20: 233 (2025) Semantic Scholar
  10. 10. 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) Semantic Scholar
  11. 11. 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) Semantic Scholar
  12. 12. 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) Semantic Scholar
  13. 13. 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) Semantic Scholar
  14. 14. DLG3のPDZドメインのミスセンスバリアントはX連鎖性知的障害を引き起こす(Missense variant in PDZ domain of DLG3 causes syndromic X-linked intellectual developmental disorder) 大辻 塩見; 山田 憲一郎; 水野 誠司; 鈴木 康予 (+8 著者) 稲葉 美枝
      日本小児科学会雑誌 129: 211 (2025)
  15. 15. 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) Semantic Scholar
  16. 16. 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
  17. 17. 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)
  18. 18. 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) Semantic Scholar
  19. 19. 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) Semantic Scholar
  20. 20. 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
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