Tokyo　Women’s　Medical　University · Department of Pediatrics

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• 原著 Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay 2025/08/152025 · 学術雑誌
• 症例報告 Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/152024 · 学術雑誌
• 原著 Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2 -associated syndrome 2023/07/012023 · 学術雑誌
• 症例報告 精神運動発達遅滞と筋緊張低下を呈し、全エクソームシーケンスにより確定診断に至った GNAO1 異常症の1例 2022/04/252022 · 学術雑誌

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