1.    Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation

反向誘導多能干細胞研構建疾病細胞系,為疾病發生及治療做鋪墊

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2.Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia

探討 CPLANE1基因剪接變異位點對Joubert綜合征患兒的影響

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3.The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

全外顯子與CNV結合進行基因檢測是更適用于智力障礙患兒的檢測方案

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