Dong Li
Children's Hospital of Philadelphia
8 papers found
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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene
UploadSpliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgGenomic profiling informs diagnoses and treatment in vascular anomalies
UploadMechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Download from doi.orgPathogenic variant in EPHB4 results in central conducting lymphatic anomaly
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