Kanazawa University · Graduate School of Medical, Pharmaceutical and Health Sciences · 助教

Research keywords小児神経学・てんかん・ミトコンドリア病・熱性けいれん・遺伝子変異

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• 頭蓋縫合早期融合症を合併したNoonan syndrome with multiple lentiginessの1例
• Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1
• Massive intestinal liquid retention in a case of severe heat stroke.
• A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome

• 競争的資金(学内) (2020-2020) 研究 West症候群の早期診断を目指した動画診断システムの確立 戦略的研究推進プログラム（基盤形成型）2020 · 競争的資金・寄付金等
• iPS細胞を用いた神経発達障害SATB2-Associated Syndromeの病態解明と治療法開発
• West症候群の早期診断を目指したオンライン動画診断支援システムの確立

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