Kosuke Taniguchi 研究室

AI 要約（直近 5 年の研究成果）

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

研究成果（16 件）

• [2026] P1313 Clinical Characteristics of Inflammatory Bowel Disease Associated with Ras-Associated Autoimmune Lymphoproliferative Syndrome-like Disease: A Case Series
  DOI: https://doi.org/10.1093/ecco-jcc/jjaf231.1494
• [2025] Mott Cell-Featuring Inflammatory Bowel Disease with DNA Polymerase Epsilon Resolved by Hematopoietic Cell Transplantation
  DOI: https://doi.org/10.1093/ibd/izaf224
• [2025] Inflammatory bowel disease in a young female patient with a novel <i>de novo TRAF3</i> frameshift variant responsive to ustekinumab: a case report
  DOI: https://doi.org/10.5217/ir.2024.00190
• [2025] Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons
  DOI: https://doi.org/10.1002/mgg3.70092
• [2025] Gallbladder Mixed Neuroendocrine–Non-Neuroendocrine Neoplasm Consisting of Adenocarcinoma and Neuroendocrine Tumor G2 Diagnosed after Surgery for Acute Cholecystitis: A Case Report and Exome Analysis
  DOI: https://doi.org/10.70352/scrj.cr.24-0097
• [2025] Isolation of Nucleated Red Blood Cells With Intact Genomic <scp>DNA</scp> From Cord Blood by Applying G&amp;T‐Seq
  DOI: https://doi.org/10.1002/rmb2.12671
• [2024] Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
  DOI: https://doi.org/10.1038/s41439-024-00290-z
• [2023] Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
  DOI: https://doi.org/10.1136/jmg-2023-109444
• [2022] A novel FLNA variant in a fetus with skeletal dysplasia
  DOI: https://doi.org/10.1038/s41439-022-00224-7
• [2022] Novel missense COL2A1 variant in a fetus with achondrogenesis type II
  DOI: https://doi.org/10.1038/s41439-022-00218-5

科研費（0 件）

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所属学会・役職（0 件）

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