P243: Splice rescue of protein-truncating variants is associated with reduced selection pressure and attenuated disease phenotype by Xi Cheng, Guozhuang Li, Nan Wu

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P840: Integrating next-generation sequencing with deep phenotyping: Enhancing prenatal diagnostic precision and unveiling the comprehensive phenotypic spectrum of skeletal disorder... by Guozhuang Li, Kexin Xu, Nan Wu

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P366: A comprehensive workflow for diagnosis and management of rare bone diseases by integrating deep phenotyping and genetic analysis by Guozhuang Li, Kexin Xu, Jianguo Zhang, Nan Wu

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O12: Deep phenotyping revolutionizes genetic diagnosis through nine strategic categories by Guozhuang Li, Kexin Xu, Jianguo Zhang, Nan Wu

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Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine by Kexin Xu, Guozhuang Li, Terry Jianguo Zhang, Nan Wu

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P211: Molecular diagnosis actively and immediately changes treatment plan in patients clinically diagnosed with congenital or idiopathic spinal deformities by Kexin Xu, Guozhuang Li, Sen Zhao, Terry Zhang, Nan Wu

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P345: Nine categories of pitfalls in initial genetic testing for rare disorders reporting inappropriate negative, inconclusive or positive results by Kexin Xu, Guozhuang Li, Sen Zhao, Terry Zhang, Nan Wu

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Chromoanagenesis in Osteosarcoma by Guozhuang Li, Nan Wu, Jen Ghabrial, Victoria Stinnett, Melanie Klausner, Laura Morsberger, Patty Long, Ezra Baraban, John M. Gross, Ying S. Zou

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Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 ‐Related Disorders: Clinical Experience and Literature Review by Aoran Maheshati, Kexin Xu, Ziquan Li, Guozhuang Li, Xiangjie Yin, Qing Li, Di Liu, Shengru Wang, Zhihong Wu, Guixing Qiu, Baozhong Zhang, Terry Jianguo Zhang, Yu Wang, Nan Wu

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