Clinical use of whole exome sequencing in children with developmental delay/intellectual disability

• Главные авторы: Yoon Hee Jo (Автор), Soo Han Choi (Автор), Hye Won Yoo (Автор), Min Jung Kwak (Автор), Kyung Hee Park (Автор), Juhyun Kong (Автор), Yun-Jin Lee (Автор), Sang Ook Nam (Автор), Bo Lyun Lee (Автор), Woo Yeong Chung (Автор), Seung Hwan Oh (Автор), Young Mi Kim (Автор)
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• Опубликовано: Elsevier, 2024-09-01T00:00:00Z.
• Предметы: article
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Background: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole...