Keio University · Faculty of Medicine / Graduate School of Medicine

Research keywords人類遺伝学・MIRAGE症候群・小児内分泌学・分子遺伝学・内分泌学・次世代シーケンシング・小児科学・先天性甲状腺機能低下症・副腎不全・性分化疾患

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• Within-individual changes in BMI and menstrual irregularity: a cohort study using real-world data2026 · BMC Women S Health 26
• Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome2026 · Endocrine Journal 73
• A 1-year-old boy with MIRAGE syndrome and nephrotic syndrome, whose kidney histopathology revealed membranous nephropathy-like findings: a case report2026 · Pediatric Nephrology 41
• Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD2026 · Journal of Clinical Endocrinology and Metabolism 111

• 非コード領域に着目した先天性内分泌疾患に関わるゲノム異常の研究2023 · -
• 遺伝子改変マウスを用いたMIRAGE症候群における副腎機能低下症の病態解明2021 · -
• 小児・AYA世代におけるMDSの発生機序と治療戦略の解明2021 · -
• 乳児に発症する炎症性腸疾患と造血不全の原因となる新たな単一遺伝子疾患の確立2021 · -

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