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European Journal of Medical Genetics|April 13, 2020
Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencingJun Li, Lina Shi, Keith Lau, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|May 31, 2020
[Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria]Libing Liu, Xiaojie Gao, Yijiao Ma, et al.
Pediatric Nephrology (Berlin, Germany)|July 11, 2026
Calciphylaxis in children: a case series and systematic reviewJun Li, Shilei Jia, Yijiao Ma, et al.
BMC Pediatrics|March 27, 2025
Two cases of primary hypertrophic osteoarthropathy caused by HPGD variants: a case report and literature reviewJun Li, Shilei Jia, Jianqun Guo, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 14, 2018
[Clinical features and mutational analysis of a case with Sensenbrenner syndrome]Shilei Jia, Jun Yang, Tingyan He, et al.
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