Kanazawa Medical University · Faculty of Medicine · 教授

Research keywordsゲノム解析・遺伝子解析・先天異常・congenital malformation syndro・臨床ゲノム学

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• Certificate of acceptance for the manuscript (ijms-1913863) titled: Adaptive immunity against WT1 and SMAD4P130L of EpCAM+ cancer cells in malignant pleural effusion1913 · 論文
• Resolution of multifocal micronodular pneumocyte hyperplasia with everolimus in a patient with tuberous sclerosis complex.
• How do you analyze a mutation of the gene consisting of one hundred exons?
• A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.

• ：2016年度ノバルティスファーマ研究助成2016 · 競争的資金
• 結節性硬化症における体細胞ﾓｻﾞｲｸ変異の同定を含めた包括的遺伝子判断ｼｽﾃﾑの開発と、新たな高次脳機能予測ﾏｰｶｰとしてのTSC1 non-functional splicing variant 多型の意義の決定競争的資金
• 日本医療研究開発機構(AMED)競争的資金
• ゲノム医療の実装に資する臨床ゲノム情報統合データベースの整備と我が国の継続的なゲノム医療実施体制の構築競争的資金

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